Methylenetetrahydrofolate Reductase (NADPH2)
5,10-Methylenetetrahydrofolate Reductase (FADH2)
Oxidoreductases Acting on CH-NH Group Donors
Methylenetetrahydrofolate Dehydrogenase (NADP)
Folic Acid
Polymorphism, Genetic
Genotype
5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase
Hyperhomocysteinemia
Vitamin B 12
Ferredoxin-NADP Reductase
Factor V
Genetic Predisposition to Disease
Cystathionine beta-Synthase
Thymidylate Synthase
Thrombophilia
Case-Control Studies
Folic Acid Deficiency
Gene Frequency
Glycine Hydroxymethyltransferase
NADPH Oxidase
Homocystinuria
Homocystine
Prothrombin
Riboflavin
Alleles
Oxidoreductases
Polymorphism, Single Nucleotide
Risk Factors
Aminohydrolases
Formate-Tetrahydrofolate Ligase
Macedonia (Republic)
Point Mutation
Mutation
S-Adenosylmethionine
NADP
Vitamin B 6
Thymine
Methenyltetrahydrofolate Cyclohydrolase
Odds Ratio
Neural Tube Defects
Betaine
Reduced Folate Carrier Protein
Polymerase Chain Reaction
Asian Continental Ancestry Group
Methotrexate
Spinal Dysraphism
Hydroxymethylglutaryl CoA Reductases
Polymorphism, Restriction Fragment Length
Amino Acid Metabolism, Inborn Errors
Transcobalamins
Ribonucleotide Reductases
Alcohol Oxidoreductases
Pyridoxine
Dietary Supplements
NADH, NADPH Oxidoreductases
Colorectal Neoplasms
Fluorodeoxyuridylate
Cytochrome-B(5) Reductase
Flavin-Adenine Dinucleotide
Heterozygote
Nitrite Reductases
Glutathione Reductase
FMN Reductase
Tetrahydrofolate Dehydrogenase
DNA Methylation
Genetic Association Studies
Thioredoxin-Disulfide Reductase
Confidence Intervals
NADPH-Ferrihemoprotein Reductase
Molecular Sequence Data
Pharmacogenetics
Base Sequence
Cytochrome Reductases
Pteroylpolyglutamic Acids
Pregnancy
Risk
Vascular Diseases
Dihydropteridine Reductase
Enzyme Stability
Haplotypes
Japan
Reference Values
S-Adenosylhomocysteine
Cohort Studies
Oxidoreductases acting on CH-NH group donors are a class of enzymes within the larger group of oxidoreductases, which are responsible for catalyzing oxidation-reduction reactions. Specifically, this subclass of enzymes acts on CH-NH group donors, where the CH-NH group is a chemical functional group consisting of a carbon atom (C) bonded to a nitrogen atom (N) via a single covalent bond.
These enzymes play a crucial role in various biological processes by transferring electrons from the CH-NH group donor to an acceptor molecule, which results in the oxidation of the donor and reduction of the acceptor. This process can lead to the formation or breakdown of chemical bonds, and plays a key role in metabolic pathways such as amino acid degradation and nitrogen fixation.
Examples of enzymes that fall within this class include:
* Amino oxidases, which catalyze the oxidative deamination of amino acids to produce alpha-keto acids, ammonia, and hydrogen peroxide.
* Transaminases, which transfer an amino group from one molecule to another, often in the process of amino acid biosynthesis or degradation.
* Amine oxidoreductases, which catalyze the oxidation of primary amines to aldehydes and secondary amines to ketones, with the concomitant reduction of molecular oxygen to hydrogen peroxide.
Homocysteine is an amino acid that is formed in the body during the metabolism of another amino acid called methionine. It's an important intermediate in various biochemical reactions, including the synthesis of proteins, neurotransmitters, and other molecules. However, elevated levels of homocysteine in the blood (a condition known as hyperhomocysteinemia) have been linked to several health issues, such as cardiovascular disease, stroke, and cognitive decline.
Homocysteine can be converted back to methionine with the help of vitamin B12 and a cofactor called betaine, or it can be converted to another amino acid called cystathionine with the help of vitamin B6 and folate (vitamin B9). Imbalances in these vitamins and other factors can lead to an increase in homocysteine levels.
It is crucial to maintain normal homocysteine levels for overall health, as high levels may contribute to the development of various diseases. Regular monitoring and maintaining a balanced diet rich in folate, vitamin B6, and vitamin B12 can help regulate homocysteine levels and reduce the risk of related health issues.
Folic acid is the synthetic form of folate, a type of B vitamin (B9). It is widely used in dietary supplements and fortified foods because it is more stable and has a longer shelf life than folate. Folate is essential for normal cell growth and metabolism, and it plays a critical role in the formation of DNA and RNA, the body's genetic material. Folic acid is also crucial during early pregnancy to prevent birth defects of the brain and spine called neural tube defects.
Medical Definition: "Folic acid is the synthetic form of folate (vitamin B9), a water-soluble vitamin involved in DNA synthesis, repair, and methylation. It is used in dietary supplementation and food fortification due to its stability and longer shelf life compared to folate. Folic acid is critical for normal cell growth, development, and red blood cell production."
Genetic polymorphism refers to the occurrence of multiple forms (called alleles) of a particular gene within a population. These variations in the DNA sequence do not generally affect the function or survival of the organism, but they can contribute to differences in traits among individuals. Genetic polymorphisms can be caused by single nucleotide changes (SNPs), insertions or deletions of DNA segments, or other types of genetic rearrangements. They are important for understanding genetic diversity and evolution, as well as for identifying genetic factors that may contribute to disease susceptibility in humans.
Tetrahydrofolates (THFs) are a type of folate, which is a form of vitamin B9. Folate is essential for the production and maintenance of new cells, especially in DNA synthesis and methylation. THFs are the active forms of folate in the body and are involved in various metabolic processes, including:
1. The conversion of homocysteine to methionine, an amino acid required for protein synthesis and the formation of S-adenosylmethionine (SAM), a major methyl donor in the body.
2. The transfer of one-carbon units in various metabolic reactions, such as the synthesis of purines and pyrimidines, which are essential components of DNA and RNA.
3. The remethylation of homocysteine to methionine, a process that helps maintain normal homocysteine levels in the body. Elevated homocysteine levels have been linked to an increased risk of cardiovascular disease.
THFs can be obtained from dietary sources, such as leafy green vegetables, legumes, and fortified cereals. They can also be synthesized endogenously in the body through the action of the enzyme dihydrofolate reductase (DHFR), which reduces dihydrofolate (DHF) to THF using NADPH as a cofactor.
Deficiencies in folate or impaired THF metabolism can lead to various health issues, including megaloblastic anemia, neural tube defects during fetal development, and an increased risk of cardiovascular disease due to elevated homocysteine levels.
Genotype, in genetics, refers to the complete heritable genetic makeup of an individual organism, including all of its genes. It is the set of instructions contained in an organism's DNA for the development and function of that organism. The genotype is the basis for an individual's inherited traits, and it can be contrasted with an individual's phenotype, which refers to the observable physical or biochemical characteristics of an organism that result from the expression of its genes in combination with environmental influences.
It is important to note that an individual's genotype is not necessarily identical to their genetic sequence. Some genes have multiple forms called alleles, and an individual may inherit different alleles for a given gene from each parent. The combination of alleles that an individual inherits for a particular gene is known as their genotype for that gene.
Understanding an individual's genotype can provide important information about their susceptibility to certain diseases, their response to drugs and other treatments, and their risk of passing on inherited genetic disorders to their offspring.
5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase is also known as Methionine Synthase. It is a vital enzyme in the human body that plays a crucial role in methionine metabolism and homocysteine regulation.
The medical definition of 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase is as follows:
A enzyme (EC 2.1.1.13) that catalyzes the methylation of homocysteine to methionine, using 5-methyltetrahydrofolate as a methyl donor. This reaction also requires the cofactor vitamin B12 (cobalamin) as a coenzyme. The enzyme is located in the cytosol of cells and is essential for the synthesis of methionine, which is an important amino acid required for various biological processes such as protein synthesis, methylation reactions, and the formation of neurotransmitters.
Deficiency or dysfunction of this enzyme can lead to several health issues, including homocystinuria, a genetic disorder characterized by elevated levels of homocysteine in the blood, which can cause serious complications such as neurological damage, cardiovascular disease, and skeletal abnormalities.
Hyperhomocysteinemia is a medical condition characterized by an excessively high level of homocysteine, an amino acid, in the blood. Generally, a level of 15 micromoles per liter (μmol/L) or higher is considered elevated.
Homocysteine is a byproduct of methionine metabolism, an essential amino acid obtained from dietary proteins. Normally, homocysteine gets converted back to methionine with the help of vitamin B12 and folate (vitamin B9), or it can be converted to another amino acid, cysteine, with the aid of vitamin B6.
Hyperhomocysteinemia can occur due to genetic defects in these enzymes, nutritional deficiencies of vitamins B12, B6, or folate, renal insufficiency, or aging. High homocysteine levels are associated with increased risks of cardiovascular diseases, including atherosclerosis, thrombosis, and stroke. It may also contribute to neurodegenerative disorders like Alzheimer's disease and cognitive decline.
It is essential to diagnose and manage hyperhomocysteinemia early to prevent potential complications. Treatment typically involves dietary modifications, supplementation of the deficient vitamins, and, in some cases, medication.
Vitamin B12, also known as cobalamin, is a water-soluble vitamin that plays a crucial role in the synthesis of DNA, formation of red blood cells, and maintenance of the nervous system. It is involved in the metabolism of every cell in the body, particularly affecting DNA regulation and neurological function.
Vitamin B12 is unique among vitamins because it contains a metal ion, cobalt, from which its name is derived. This vitamin can be synthesized only by certain types of bacteria and is not produced by plants or animals. The major sources of vitamin B12 in the human diet include animal-derived foods such as meat, fish, poultry, eggs, and dairy products, as well as fortified plant-based milk alternatives and breakfast cereals.
Deficiency in vitamin B12 can lead to various health issues, including megaloblastic anemia, fatigue, neurological symptoms such as numbness and tingling in the extremities, memory loss, and depression. Since vitamin B12 is not readily available from plant-based sources, vegetarians and vegans are at a higher risk of deficiency and may require supplementation or fortified foods to meet their daily requirements.
Ferredoxin-NADP Reductase (FDNR) is an enzyme that catalyzes the electron transfer from ferredoxin to NADP+, reducing it to NADPH. This reaction plays a crucial role in several metabolic pathways, including photosynthesis and nitrogen fixation.
In photosynthesis, FDNR is located in the stroma of chloroplasts and receives electrons from ferredoxin, which is reduced by photosystem I. The enzyme then transfers these electrons to NADP+, generating NADPH, which is used in the Calvin cycle for carbon fixation.
In nitrogen fixation, FDNR is found in the nitrogen-fixing bacteria and receives electrons from ferredoxin, which is reduced by nitrogenase. The enzyme then transfers these electrons to NADP+, generating NADPH, which is used in the reduction of nitrogen gas (N2) to ammonia (NH3).
FDNR is a flavoprotein that contains a FAD cofactor and an iron-sulfur cluster. The enzyme catalyzes the electron transfer through a series of conformational changes that bring ferredoxin and NADP+ in close proximity, allowing for efficient electron transfer.
A homozygote is an individual who has inherited the same allele (version of a gene) from both parents and therefore possesses two identical copies of that allele at a specific genetic locus. This can result in either having two dominant alleles (homozygous dominant) or two recessive alleles (homozygous recessive). In contrast, a heterozygote has inherited different alleles from each parent for a particular gene.
The term "homozygote" is used in genetics to describe the genetic makeup of an individual at a specific locus on their chromosomes. Homozygosity can play a significant role in determining an individual's phenotype (observable traits), as having two identical alleles can strengthen the expression of certain characteristics compared to having just one dominant and one recessive allele.
Factor V, also known as proaccelerin or labile factor, is a protein involved in the coagulation cascade, which is a series of chemical reactions that leads to the formation of a blood clot. Factor V acts as a cofactor for the activation of Factor X to Factor Xa, which is a critical step in the coagulation cascade.
When blood vessels are damaged, the coagulation cascade is initiated to prevent excessive bleeding. During this process, Factor V is activated by thrombin, another protein involved in coagulation, and then forms a complex with activated Factor X and calcium ions on the surface of platelets or other cells. This complex converts prothrombin to thrombin, which then converts fibrinogen to fibrin to form a stable clot.
Deficiency or dysfunction of Factor V can lead to bleeding disorders such as hemophilia B or factor V deficiency, while mutations in the gene encoding Factor V can increase the risk of thrombosis, as seen in the Factor V Leiden mutation.
Genetic predisposition to disease refers to an increased susceptibility or vulnerability to develop a particular illness or condition due to inheriting specific genetic variations or mutations from one's parents. These genetic factors can make it more likely for an individual to develop a certain disease, but it does not guarantee that the person will definitely get the disease. Environmental factors, lifestyle choices, and interactions between genes also play crucial roles in determining if a genetically predisposed person will actually develop the disease. It is essential to understand that having a genetic predisposition only implies a higher risk, not an inevitable outcome.
Cystathionine beta-synthase (CBS) is an enzyme that plays a crucial role in the metabolic pathway responsible for the production of the amino acid cysteine from homocysteine. CBS catalyzes the condensation of serine with homocysteine to form cystathionine, which is subsequently hydrolyzed to cysteine and alpha-ketobutyrate by another enzyme called cystathionine gamma-lyase.
CBS requires the cofactor pyridoxal 5'-phosphate (PLP) for its activity and is primarily located in the liver, where it helps regulate homocysteine levels in the body. Elevated levels of homocysteine have been linked to various health issues, including cardiovascular disease and neurological disorders.
In addition to its role in cysteine synthesis, CBS also contributes to the transsulfuration pathway, which is involved in the detoxification of methionine and the production of glutathione, an essential antioxidant in the body. Genetic mutations in the CBS gene can lead to conditions such as homocystinuria, a rare inherited metabolic disorder characterized by elevated levels of homocysteine and methionine in the blood and urine.
Thymidylate synthase (TS) is an essential enzyme in the metabolic pathway for DNA synthesis and repair. It catalyzes the conversion of deoxyuridine monophosphate (dUMP) to deoxythymidine monophosphate (dTMP), which is a crucial building block for DNA replication and repair. This reaction also involves the methylation of dUMP using a methyl group donated by N5,N10-methylenetetrahydrofolate, resulting in the formation of dihydrofolate as a byproduct. The regeneration of dihydrofolate to tetrahydrofolate is necessary for TS to continue functioning, making it dependent on the folate cycle. Thymidylate synthase inhibitors are used in cancer chemotherapy to interfere with DNA synthesis and replication, leading to cytotoxic effects in rapidly dividing cells.
Thrombophilia is a medical condition characterized by an increased tendency to form blood clots (thrombi) due to various genetic or acquired abnormalities in the coagulation system. These abnormalities can lead to a hypercoagulable state, which can cause thrombosis in both veins and arteries. Commonly identified thrombophilias include factor V Leiden mutation, prothrombin G20210A mutation, antithrombin deficiency, protein C deficiency, and protein S deficiency.
Acquired thrombophilias can be caused by various factors such as antiphospholipid antibody syndrome (APS), malignancies, pregnancy, oral contraceptive use, hormone replacement therapy, and certain medical conditions like inflammatory bowel disease or nephrotic syndrome.
It is essential to diagnose thrombophilia accurately, as it may influence the management of venous thromboembolism (VTE) events and guide decisions regarding prophylactic anticoagulation in high-risk situations.
A case-control study is an observational research design used to identify risk factors or causes of a disease or health outcome. In this type of study, individuals with the disease or condition (cases) are compared with similar individuals who do not have the disease or condition (controls). The exposure history or other characteristics of interest are then compared between the two groups to determine if there is an association between the exposure and the disease.
Case-control studies are often used when it is not feasible or ethical to conduct a randomized controlled trial, as they can provide valuable insights into potential causes of diseases or health outcomes in a relatively short period of time and at a lower cost than other study designs. However, because case-control studies rely on retrospective data collection, they are subject to biases such as recall bias and selection bias, which can affect the validity of the results. Therefore, it is important to carefully design and conduct case-control studies to minimize these potential sources of bias.
Folic Acid Deficiency is a condition characterized by insufficient levels of folic acid (Vitamin B9) in the body. Folic acid plays an essential role in the synthesis of DNA and RNA, the production of red blood cells, and the prevention of neural tube defects during fetal development.
A deficiency in folic acid can lead to a variety of health issues, including:
- Megaloblastic anemia: A type of anemia characterized by large, structurally abnormal, immature red blood cells (megaloblasts) that are unable to function properly. This results in fatigue, weakness, shortness of breath, and a pale appearance.
- Neural tube defects: In pregnant women, folic acid deficiency can increase the risk of neural tube defects, such as spina bifida and anencephaly, in the developing fetus.
- Developmental delays and neurological disorders: In infants and children, folic acid deficiency during pregnancy can lead to developmental delays, learning difficulties, and neurological disorders.
- Increased risk of cardiovascular disease: Folate plays a role in maintaining healthy homocysteine levels. Deficiency can result in elevated homocysteine levels, which is an independent risk factor for cardiovascular disease.
Folic acid deficiency can be caused by various factors, including poor dietary intake, malabsorption syndromes (such as celiac disease or Crohn's disease), pregnancy, alcoholism, certain medications (like methotrexate and phenytoin), and genetic disorders affecting folate metabolism. To prevent or treat folic acid deficiency, dietary supplementation with folic acid is often recommended, especially for pregnant women and individuals at risk of deficiency.
Gene frequency, also known as allele frequency, is a measure in population genetics that reflects the proportion of a particular gene or allele (variant of a gene) in a given population. It is calculated as the number of copies of a specific allele divided by the total number of all alleles at that genetic locus in the population.
For example, if we consider a gene with two possible alleles, A and a, the gene frequency of allele A (denoted as p) can be calculated as follows:
p = (number of copies of allele A) / (total number of all alleles at that locus)
Similarly, the gene frequency of allele a (denoted as q) would be:
q = (number of copies of allele a) / (total number of all alleles at that locus)
Since there are only two possible alleles for this gene in this example, p + q = 1. These frequencies can help researchers understand genetic diversity and evolutionary processes within populations.
Glycine hydroxymethyltransferase (GHMT or GHT) is an enzyme that plays a crucial role in the metabolic pathway called the methylation cycle, specifically in the synthesis of the amino acid serine and the conversion of glycine. It catalyzes the reversible reaction between glycine and methylene tetrahydrofolate (MTHF) to produce 5,10-methylenetetrahydrofolate and sarcosine.
The reaction can be represented as follows:
Glycine + MTHF ↔ Sarcosine + 5,10-methylenetetrahydrofolate
This enzyme is widely distributed in various tissues, including the liver, kidney, and pancreas. In addition to its role in amino acid metabolism, GHMT also contributes to the regulation of one-carbon metabolism, which is essential for methylation reactions, DNA synthesis, and cellular homeostasis.
NADPH oxidase is an enzyme complex that plays a crucial role in the production of reactive oxygen species (ROS) in various cell types. The primary function of NADPH oxidase is to catalyze the transfer of electrons from NADPH to molecular oxygen, resulting in the formation of superoxide radicals. This enzyme complex consists of several subunits, including two membrane-bound components (gp91phox and p22phox) and several cytosolic components (p47phox, p67phox, p40phox, and rac1 or rac2). Upon activation, these subunits assemble to form a functional enzyme complex that generates ROS, which serve as important signaling molecules in various cellular processes. However, excessive or uncontrolled production of ROS by NADPH oxidase has been implicated in the pathogenesis of several diseases, such as cardiovascular disorders, neurodegenerative diseases, and cancer.
Homocystinuria is a genetic disorder characterized by the accumulation of homocysteine and its metabolites in the body due to a deficiency in the enzyme cystathionine beta-synthase (CBS). This enzyme is responsible for converting homocysteine to cystathionine, which is a critical step in the metabolic pathway that breaks down methionine.
As a result of this deficiency, homocysteine levels in the blood increase and can lead to various health problems, including neurological impairment, ocular abnormalities (such as ectopia lentis or dislocation of the lens), skeletal abnormalities (such as Marfan-like features), and vascular complications.
Homocystinuria can be diagnosed through newborn screening or by measuring homocysteine levels in the blood or urine. Treatment typically involves a low-methionine diet, supplementation with vitamin B6 (pyridoxine), betaine, and/or methylcobalamin (a form of vitamin B12) to help reduce homocysteine levels and prevent complications associated with the disorder.
Homocysteine is an amino acid that is formed from the metabolism of another amino acid called methionine. It is not normally present in significant amounts in the diet, but it can be elevated in some people due to genetic factors or nutritional deficiencies (such as a lack of vitamin B12, folate, or betaine). Elevated levels of homocysteine in the blood have been linked to an increased risk of cardiovascular disease, including heart attack and stroke. Homocysteine can be converted back to methionine through a process that requires the presence of vitamin B12, folate, and betaine. It can also be converted to another amino acid called cystathionine through a reaction that requires the enzyme cystathionine beta-synthase and the cofactor vitamin B6.
Prothrombin is a protein present in blood plasma, and it's also known as coagulation factor II. It plays a crucial role in the coagulation cascade, which is a complex series of reactions that leads to the formation of a blood clot.
When an injury occurs, the coagulation cascade is initiated to prevent excessive blood loss. Prothrombin is converted into its active form, thrombin, by another factor called factor Xa in the presence of calcium ions, phospholipids, and factor Va. Thrombin then catalyzes the conversion of fibrinogen into fibrin, forming a stable clot.
Prothrombin levels can be measured through a blood test, which is often used to diagnose or monitor conditions related to bleeding or coagulation disorders, such as liver disease or vitamin K deficiency.
Riboflavin, also known as vitamin B2, is a water-soluble vitamin that plays a crucial role in energy production and cellular function, growth, and development. It is essential for the metabolism of carbohydrates, fats, and proteins, and it helps to maintain healthy skin, hair, and nails. Riboflavin is involved in the production of energy by acting as a coenzyme in various redox reactions. It also contributes to the maintenance of the mucous membranes of the digestive tract and promotes iron absorption.
Riboflavin can be found in a variety of foods, including milk, cheese, leafy green vegetables, liver, kidneys, legumes, yeast, mushrooms, and almonds. It is sensitive to light and heat, so exposure to these elements can lead to its degradation and loss of vitamin activity.
Deficiency in riboflavin is rare but can occur in individuals with poor dietary intake or malabsorption disorders. Symptoms of riboflavin deficiency include inflammation of the mouth and tongue, anemia, skin disorders, and neurological symptoms such as confusion and mood changes. Riboflavin supplements are available for those who have difficulty meeting their daily requirements through diet alone.
An allele is a variant form of a gene that is located at a specific position on a specific chromosome. Alleles are alternative forms of the same gene that arise by mutation and are found at the same locus or position on homologous chromosomes.
Each person typically inherits two copies of each gene, one from each parent. If the two alleles are identical, a person is said to be homozygous for that trait. If the alleles are different, the person is heterozygous.
For example, the ABO blood group system has three alleles, A, B, and O, which determine a person's blood type. If a person inherits two A alleles, they will have type A blood; if they inherit one A and one B allele, they will have type AB blood; if they inherit two B alleles, they will have type B blood; and if they inherit two O alleles, they will have type O blood.
Alleles can also influence traits such as eye color, hair color, height, and other physical characteristics. Some alleles are dominant, meaning that only one copy of the allele is needed to express the trait, while others are recessive, meaning that two copies of the allele are needed to express the trait.
Oxidoreductases are a class of enzymes that catalyze oxidation-reduction reactions, which involve the transfer of electrons from one molecule (the reductant) to another (the oxidant). These enzymes play a crucial role in various biological processes, including energy production, metabolism, and detoxification.
The oxidoreductase-catalyzed reaction typically involves the donation of electrons from a reducing agent (donor) to an oxidizing agent (acceptor), often through the transfer of hydrogen atoms or hydride ions. The enzyme itself does not undergo any permanent chemical change during this process, but rather acts as a catalyst to lower the activation energy required for the reaction to occur.
Oxidoreductases are classified and named based on the type of electron donor or acceptor involved in the reaction. For example, oxidoreductases that act on the CH-OH group of donors are called dehydrogenases, while those that act on the aldehyde or ketone groups are called oxidases. Other examples include reductases, peroxidases, and catalases.
Understanding the function and regulation of oxidoreductases is important for understanding various physiological processes and developing therapeutic strategies for diseases associated with impaired redox homeostasis, such as cancer, neurodegenerative disorders, and cardiovascular disease.
Single Nucleotide Polymorphism (SNP) is a type of genetic variation that occurs when a single nucleotide (A, T, C, or G) in the DNA sequence is altered. This alteration must occur in at least 1% of the population to be considered a SNP. These variations can help explain why some people are more susceptible to certain diseases than others and can also influence how an individual responds to certain medications. SNPs can serve as biological markers, helping scientists locate genes that are associated with disease. They can also provide information about an individual's ancestry and ethnic background.
Medical Definition:
"Risk factors" are any attribute, characteristic or exposure of an individual that increases the likelihood of developing a disease or injury. They can be divided into modifiable and non-modifiable risk factors. Modifiable risk factors are those that can be changed through lifestyle choices or medical treatment, while non-modifiable risk factors are inherent traits such as age, gender, or genetic predisposition. Examples of modifiable risk factors include smoking, alcohol consumption, physical inactivity, and unhealthy diet, while non-modifiable risk factors include age, sex, and family history. It is important to note that having a risk factor does not guarantee that a person will develop the disease, but rather indicates an increased susceptibility.
Methionine is an essential amino acid, which means that it cannot be synthesized by the human body and must be obtained through the diet. It plays a crucial role in various biological processes, including:
1. Protein synthesis: Methionine is one of the building blocks of proteins, helping to create new proteins and maintain the structure and function of cells.
2. Methylation: Methionine serves as a methyl group donor in various biochemical reactions, which are essential for DNA synthesis, gene regulation, and neurotransmitter production.
3. Antioxidant defense: Methionine can be converted to cysteine, which is involved in the formation of glutathione, a potent antioxidant that helps protect cells from oxidative damage.
4. Homocysteine metabolism: Methionine is involved in the conversion of homocysteine back to methionine through a process called remethylation, which is essential for maintaining normal homocysteine levels and preventing cardiovascular disease.
5. Fat metabolism: Methionine helps facilitate the breakdown and metabolism of fats in the body.
Foods rich in methionine include meat, fish, dairy products, eggs, and some nuts and seeds.
Aminohydrolases are a class of enzymes that catalyze the hydrolysis of amide bonds and the breakdown of urea, converting it into ammonia and carbon dioxide. They are also known as amidases or urease. These enzymes play an essential role in various biological processes, including nitrogen metabolism and the detoxification of xenobiotics.
Aminohydrolases can be further classified into several subclasses based on their specificity for different types of amide bonds. For example, peptidases are a type of aminohydrolase that specifically hydrolyze peptide bonds in proteins and peptides. Other examples include ureases, which hydrolyze urea, and acylamidases, which hydrolyze acylamides.
Aminohydrolases are widely distributed in nature and can be found in various organisms, including bacteria, fungi, plants, and animals. They have important applications in biotechnology and medicine, such as in the production of pharmaceuticals, the treatment of wastewater, and the diagnosis of genetic disorders.
Vitamin B Complex refers to a group of water-soluble vitamins that play essential roles in cell metabolism, cellular function, and formation of red blood cells. This complex includes 8 distinct vitamins, all of which were originally thought to be the same vitamin when first discovered. They are now known to have individual structures and specific functions.
1. Vitamin B1 (Thiamin): Necessary for energy production and nerve function.
2. Vitamin B2 (Riboflavin): Involved in energy production and growth.
3. Vitamin B3 (Niacin): Assists in energy production, DNA repair, and acts as a co-factor for various enzymes.
4. Vitamin B5 (Pantothenic Acid): Plays a role in the synthesis of Coenzyme A, which is vital for fatty acid metabolism.
5. Vitamin B6 (Pyridoxine): Needed for protein metabolism, neurotransmitter synthesis, hemoglobin formation, and immune function.
6. Vitamin B7 (Biotin): Involved in fatty acid synthesis, glucose metabolism, and nail and hair health.
7. Vitamin B9 (Folate or Folic Acid): Essential for DNA replication, cell division, and the production of red blood cells.
8. Vitamin B12 (Cobalamin): Necessary for nerve function, DNA synthesis, and the production of red blood cells.
These vitamins are often found together in various foods, and a balanced diet usually provides sufficient amounts of each. Deficiencies can lead to specific health issues related to the functions of each particular vitamin.
Formate-tetrahydrofolate ligase, also known as formyltetrahydrofolate synthetase, is an enzyme that catalyzes the reaction between formate and tetrahydrofolate to form formyltetrahydrofolate. This reaction is an important step in the metabolic pathway of one-carbon metabolism, which is involved in the biosynthesis of purines, thymidylate, and methionine. The enzyme requires ATP for its activity and plays a crucial role in maintaining the cellular pool of one-carbon units. Deficiencies in this enzyme can lead to serious health consequences, including megaloblastic anemia and neurological disorders.
A point mutation is a type of genetic mutation where a single nucleotide base (A, T, C, or G) in DNA is altered, deleted, or substituted with another nucleotide. Point mutations can have various effects on the organism, depending on the location of the mutation and whether it affects the function of any genes. Some point mutations may not have any noticeable effect, while others might lead to changes in the amino acids that make up proteins, potentially causing diseases or altering traits. Point mutations can occur spontaneously due to errors during DNA replication or be inherited from parents.
A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.
S-Adenosylmethionine (SAMe) is a physiological compound involved in methylation reactions, transulfuration pathways, and aminopropylation processes in the body. It is formed from the coupling of methionine, an essential sulfur-containing amino acid, and adenosine triphosphate (ATP) through the action of methionine adenosyltransferase enzymes.
SAMe serves as a major methyl donor in various biochemical reactions, contributing to the synthesis of numerous compounds such as neurotransmitters, proteins, phospholipids, nucleic acids, and other methylated metabolites. Additionally, SAMe plays a crucial role in the detoxification process within the liver by participating in glutathione production, which is an important antioxidant and detoxifying agent.
In clinical settings, SAMe supplementation has been explored as a potential therapeutic intervention for various conditions, including depression, osteoarthritis, liver diseases, and fibromyalgia, among others. However, its efficacy remains a subject of ongoing research and debate within the medical community.
NADP (Nicotinamide Adenine Dinucleotide Phosphate) is a coenzyme that plays a crucial role as an electron carrier in various redox reactions in the human body. It exists in two forms: NADP+, which functions as an oxidizing agent and accepts electrons, and NADPH, which serves as a reducing agent and donates electrons.
NADPH is particularly important in anabolic processes, such as lipid and nucleotide synthesis, where it provides the necessary reducing equivalents to drive these reactions forward. It also plays a critical role in maintaining the cellular redox balance by participating in antioxidant defense mechanisms that neutralize harmful reactive oxygen species (ROS).
In addition, NADP is involved in various metabolic pathways, including the pentose phosphate pathway and the Calvin cycle in photosynthesis. Overall, NADP and its reduced form, NADPH, are essential molecules for maintaining proper cellular function and energy homeostasis.
Medical Definition of Vitamin B6:
Vitamin B6, also known as pyridoxine, is a water-soluble vitamin that plays a crucial role in various bodily functions. It is involved in the process of making serotonin and norepinephrine, which are chemicals that transmit signals in the brain. Vitamin B6 is also necessary for the formation of myelin, a protein layer that forms around nerve cells. Additionally, it helps the body to metabolize proteins, carbohydrates, and fats, and is involved in the creation of red blood cells.
Vitamin B6 can be found in a wide variety of foods, including poultry, seafood, bananas, potatoes, and fortified cereals. A deficiency in vitamin B6 can lead to anemia, confusion, and a weakened immune system. On the other hand, excessive intake of vitamin B6 can cause nerve damage and skin lesions. It is important to maintain appropriate levels of vitamin B6 through a balanced diet and, if necessary, supplementation under the guidance of a healthcare provider.
Thymine is a pyrimidine nucleobase that is one of the four nucleobases in the nucleic acid double helix of DNA (the other three being adenine, guanine, and cytosine). It is denoted by the letter T in DNA notation and pairs with adenine via two hydrogen bonds. Thymine is not typically found in RNA, where uracil takes its place pairing with adenine. The structure of thymine consists of a six-membered ring (pyrimidine) fused to a five-membered ring containing two nitrogen atoms and a ketone group.
Methylenetetrahydrofolate cyclohydrolase is an enzyme that is involved in the metabolism of folate, a type of B vitamin. The official medical definition of this enzyme is:
"An enzyme that catalyzes the conversion of 5,6,7,8-tetrahydrofolate to 5,6,7,8-tetrahydropteroylglutamate, a reaction that involves the cleavage of the carbon-nitrogen bond of the methylene bridge and the formation of a cyclic structure."
This enzyme plays an important role in the synthesis of tetrahydrofolate, which is a cofactor involved in the transfer of one-carbon units in various metabolic reactions. Mutations in the gene that encodes this enzyme can lead to a rare inherited disorder called methylenetetrahydrofolate reductase deficiency, which can cause neurological symptoms and developmental delay.
The odds ratio (OR) is a statistical measure used in epidemiology and research to estimate the association between an exposure and an outcome. It represents the odds that an event will occur in one group versus the odds that it will occur in another group, assuming that all other factors are held constant.
In medical research, the odds ratio is often used to quantify the strength of the relationship between a risk factor (exposure) and a disease outcome. An OR of 1 indicates no association between the exposure and the outcome, while an OR greater than 1 suggests that there is a positive association between the two. Conversely, an OR less than 1 implies a negative association.
It's important to note that the odds ratio is not the same as the relative risk (RR), which compares the incidence rates of an outcome in two groups. While the OR can approximate the RR when the outcome is rare, they are not interchangeable and can lead to different conclusions about the association between an exposure and an outcome.
Neural Tube Defects (NTDs) are a group of birth defects that affect the brain, spine, or spinal cord. They occur when the neural tube, which forms the early brain and spinal cord of the embryo, does not close properly during fetal development. This can result in various conditions such as:
1. Anencephaly: a severe defect where most of the brain and skull are missing. Infants with anencephaly are usually stillborn or die shortly after birth.
2. Spina bifida: a condition where the spine does not close properly, leaving a portion of the spinal cord and nerves exposed. This can result in various neurological problems, including paralysis, bladder and bowel dysfunction, and hydrocephalus (fluid buildup in the brain).
3. Encephalocele: a condition where the skull does not close properly, allowing the brain to protrude through an opening in the skull. This can result in various neurological problems, including developmental delays, vision and hearing impairments, and seizures.
NTDs are thought to be caused by a combination of genetic and environmental factors, such as folic acid deficiency, obesity, diabetes, and exposure to certain medications during pregnancy. Folic acid supplementation before and during early pregnancy has been shown to reduce the risk of NTDs.
Betaine, also known as trimethylglycine, is a naturally occurring compound that can be found in various foods such as beets, spinach, and whole grains. In the body, betaine functions as an osmolyte, helping to regulate water balance in cells, and as a methyl donor, contributing to various metabolic processes including the conversion of homocysteine to methionine.
In medical terms, betaine is also used as a dietary supplement and medication. Betaine hydrochloride is a form of betaine that is sometimes used as a supplement to help with digestion by providing additional stomach acid. Betaine anhydrous, on the other hand, is often used as a supplement for improving athletic performance and promoting liver health.
Betaine has also been studied for its potential role in protecting against various diseases, including cardiovascular disease, diabetes, and neurological disorders. However, more research is needed to fully understand its mechanisms of action and therapeutic potential.
Fertility agents for males are medications or supplements that are used to improve male fertility. They can work by increasing sperm count, improving sperm motility (movement), and enhancing overall sperm quality. Some examples of male fertility agents include:
1. Clomiphene citrate: This medication is typically used to treat infertility in women, but it can also be prescribed off-label for men with low sperm counts. It works by stimulating the production of follicle-stimulating hormone (FSH) and luteinizing hormone (LH), which are important for sperm production.
2. Gonadotropins: These are hormones that can be given as injections to stimulate the testicles to produce more testosterone and sperm. Human chorionic gonadotropin (hCG) and human menopausal gonadotropin (hMG) are examples of gonadotropins used for male fertility treatment.
3. Antioxidants: Certain antioxidant supplements, such as vitamin C, vitamin E, coenzyme Q10, and L-carnitine, have been shown to improve sperm quality by reducing oxidative stress and DNA damage in sperm cells.
4. Herbal supplements: Some herbs, such as tribulus terrestris, maca root, and ashwagandha, are believed to boost male fertility by increasing testosterone levels and improving sperm count and motility. However, their effectiveness is not well-established, and they should be used with caution under the guidance of a healthcare provider.
5. Varicocele repair: In some cases, a varicocele (dilated vein in the scrotum) can contribute to male infertility by increasing the temperature around the testicles and impairing sperm production. Surgical repair of a varicocele may be recommended to improve fertility.
It is important to consult with a healthcare provider before starting any fertility treatment, as these agents may have side effects or interact with other medications. A thorough evaluation of male fertility factors, such as hormone levels, semen analysis, and physical examination, should be performed to determine the most appropriate treatment approach.
The Reduced Folate Carrier Protein (RFC) is also known as the Folate Receptor Alpha (FR-α). It is a transmembrane protein responsible for the cellular influx of reduced folates, which are essential cofactors in various metabolic processes, particularly DNA synthesis and methylation. These processes are vital for cell growth, division, and development.
Reduced Folate Carrier Protein is widely expressed in many tissues, including the kidneys, liver, intestines, and choroid plexus. It plays a crucial role in maintaining intracellular folate homeostasis by facilitating the uptake of reduced folates from circulation into cells.
Dysfunctions or mutations in the RFC gene can lead to impaired folate transport, which may result in various clinical manifestations, such as megaloblastic anemia and neurological disorders. Proper folate status is essential for overall health, particularly during pregnancy and fetal development, as it helps prevent neural tube defects in newborns.
Nitrate reductases are a group of enzymes that catalyze the reduction of nitrate (NO3-) to nitrite (NO2-). This process is an essential part of the nitrogen cycle, where nitrate serves as a terminal electron acceptor in anaerobic respiration for many bacteria and archaea. In plants, this enzyme plays a crucial role in nitrogen assimilation by reducing nitrate to ammonium (NH4+), which can then be incorporated into organic compounds. Nitrate reductases require various cofactors, such as molybdenum, heme, and/or FAD, for their activity. There are three main types of nitrate reductases: membrane-bound (which use menaquinol as an electron donor), cytoplasmic (which use NADH or NADPH as an electron donor), and assimilatory (which also use NADH or NADPH as an electron donor).
Cytosine is one of the four nucleobases in the nucleic acid molecules DNA and RNA, along with adenine, guanine, and thymine (in DNA) or uracil (in RNA). The single-letter abbreviation for cytosine is "C."
Cytosine base pairs specifically with guanine through hydrogen bonding, forming a base pair. In DNA, the double helix consists of two complementary strands of nucleotides held together by these base pairs, such that the sequence of one strand determines the sequence of the other. This property is critical for DNA replication and transcription, processes that are essential for life.
Cytosine residues in DNA can undergo spontaneous deamination to form uracil, which can lead to mutations if not corrected by repair mechanisms. In RNA, cytosine can be methylated at the 5-carbon position to form 5-methylcytosine, a modification that plays a role in regulating gene expression and other cellular processes.
Polymerase Chain Reaction (PCR) is a laboratory technique used to amplify specific regions of DNA. It enables the production of thousands to millions of copies of a particular DNA sequence in a rapid and efficient manner, making it an essential tool in various fields such as molecular biology, medical diagnostics, forensic science, and research.
The PCR process involves repeated cycles of heating and cooling to separate the DNA strands, allow primers (short sequences of single-stranded DNA) to attach to the target regions, and extend these primers using an enzyme called Taq polymerase, resulting in the exponential amplification of the desired DNA segment.
In a medical context, PCR is often used for detecting and quantifying specific pathogens (viruses, bacteria, fungi, or parasites) in clinical samples, identifying genetic mutations or polymorphisms associated with diseases, monitoring disease progression, and evaluating treatment effectiveness.
The term "Asian Continental Ancestry Group" is a medical/ethnic classification used to describe a person's genetic background and ancestry. According to this categorization, individuals with origins in the Asian continent are grouped together. This includes populations from regions such as East Asia (e.g., China, Japan, Korea), South Asia (e.g., India, Pakistan, Bangladesh), Southeast Asia (e.g., Philippines, Indonesia, Thailand), and Central Asia (e.g., Kazakhstan, Uzbekistan, Tajikistan). It is important to note that this broad categorization may not fully capture the genetic diversity within these regions or accurately reflect an individual's specific ancestral origins.
Methotrexate is a medication used in the treatment of certain types of cancer and autoimmune diseases. It is an antimetabolite that inhibits the enzyme dihydrofolate reductase, which is necessary for the synthesis of purines and pyrimidines, essential components of DNA and RNA. By blocking this enzyme, methotrexate interferes with cell division and growth, making it effective in treating rapidly dividing cells such as cancer cells.
In addition to its use in cancer treatment, methotrexate is also used to manage autoimmune diseases such as rheumatoid arthritis, psoriasis, and inflammatory bowel disease. In these conditions, methotrexate modulates the immune system and reduces inflammation.
It's important to note that methotrexate can have significant side effects and should be used under the close supervision of a healthcare provider. Regular monitoring of blood counts, liver function, and kidney function is necessary during treatment with methotrexate.
Spinal dysraphism is a broad term used to describe a group of congenital malformations of the spine and spinal cord. These defects occur during embryonic development when the neural tube, which eventually forms the brain and spinal cord, fails to close properly. This results in an incomplete development or formation of the spinal cord and/or vertebral column.
There are two main categories of spinal dysraphism: open (also called exposed or overt) and closed (also called hidden or occult). Open spinal dysraphisms, such as myelomeningocele and myelocele, involve exposure of the spinal cord and/or its coverings through an opening in the back. Closed spinal dysraphisms, such as lipomyelomeningocele, tethered cord syndrome, and diastematomyelia, are more subtle and may not be visibly apparent at birth.
Symptoms of spinal dysraphism can vary widely depending on the type and severity of the defect. They may include motor and sensory impairments, bowel and bladder dysfunction, orthopedic deformities, and increased risk for neurological complications such as hydrocephalus (accumulation of fluid in the brain). Early diagnosis and intervention are crucial to optimize outcomes and minimize potential complications.
The medical definition of "Habitual Abortion" refers to a woman who has three or more consecutive pregnancies that end in spontaneous miscarriages before 20 weeks of gestation. The cause of habitual abortions can be difficult to determine and may involve genetic, anatomical, hormonal, or immune system factors. Treatment is often aimed at addressing any underlying issues that may be contributing to the recurrent miscarriages. It's important to note that the terminology has changed over time and the term "recurrent pregnancy loss" is now more commonly used in place of "habitual abortion".
Hydroxymethylglutaryl CoA (HMG-CoA) reductase is an enzyme that plays a crucial role in the synthesis of cholesterol in the body. It is found in the endoplasmic reticulum of cells and catalyzes the conversion of HMG-CoA to mevalonic acid, which is a key rate-limiting step in the cholesterol biosynthetic pathway.
The reaction catalyzed by HMG-CoA reductase is as follows:
HMG-CoA + 2 NADPH + 2 H+ → mevalonic acid + CoA + 2 NADP+
This enzyme is the target of statin drugs, which are commonly prescribed to lower cholesterol levels in the treatment of cardiovascular diseases. Statins work by inhibiting HMG-CoA reductase, thereby reducing the production of cholesterol in the body.
Restriction Fragment Length Polymorphism (RFLP) is a term used in molecular biology and genetics. It refers to the presence of variations in DNA sequences among individuals, which can be detected by restriction enzymes. These enzymes cut DNA at specific sites, creating fragments of different lengths.
In RFLP analysis, DNA is isolated from an individual and treated with a specific restriction enzyme that cuts the DNA at particular recognition sites. The resulting fragments are then separated by size using gel electrophoresis, creating a pattern unique to that individual's DNA. If there are variations in the DNA sequence between individuals, the restriction enzyme may cut the DNA at different sites, leading to differences in the length of the fragments and thus, a different pattern on the gel.
These variations can be used for various purposes, such as identifying individuals, diagnosing genetic diseases, or studying evolutionary relationships between species. However, RFLP analysis has largely been replaced by more modern techniques like polymerase chain reaction (PCR)-based methods and DNA sequencing, which offer higher resolution and throughput.
Inborn errors of amino acid metabolism refer to genetic disorders that affect the body's ability to properly break down and process individual amino acids, which are the building blocks of proteins. These disorders can result in an accumulation of toxic levels of certain amino acids or their byproducts in the body, leading to a variety of symptoms and health complications.
There are many different types of inborn errors of amino acid metabolism, each affecting a specific amino acid or group of amino acids. Some examples include:
* Phenylketonuria (PKU): This disorder affects the breakdown of the amino acid phenylalanine, leading to its accumulation in the body and causing brain damage if left untreated.
* Maple syrup urine disease: This disorder affects the breakdown of the branched-chain amino acids leucine, isoleucine, and valine, leading to their accumulation in the body and causing neurological problems.
* Homocystinuria: This disorder affects the breakdown of the amino acid methionine, leading to its accumulation in the body and causing a range of symptoms including developmental delay, intellectual disability, and cardiovascular problems.
Treatment for inborn errors of amino acid metabolism typically involves dietary restrictions or supplementation to manage the levels of affected amino acids in the body. In some cases, medication or other therapies may also be necessary. Early diagnosis and treatment can help prevent or minimize the severity of symptoms and health complications associated with these disorders.
Transcobalamins are a group of proteins in the human body that are responsible for the transport of vitamin B12, also known as cobalamin. There are three main types of transcobalamins:
1. Transcobalamin I (also known as haptocorrin or R-binders): This is a protein produced in various tissues, including the salivary glands and gastric mucosa. It binds to vitamin B12 in the stomach and protects it from degradation by digestive enzymes. However, this form of vitamin B12 is not available for absorption and must be converted to other forms.
2. Transcobalamin II: This is a protein produced mainly in the kidneys and intestines. It binds to vitamin B12 that has been freed from its binding proteins in the stomach and facilitates its absorption in the intestine. Once absorbed, transcobalamin II transports vitamin B12 to tissues throughout the body.
3. Transcobalamin III (also known as intrinsic factor): This is a protein produced by the parietal cells of the stomach. It binds to vitamin B12 and protects it from degradation in the acidic environment of the stomach. Intrinsic factor is essential for the absorption of vitamin B12 in the intestine, as it facilitates its transport across the intestinal wall.
Deficiencies in transcobalamins can lead to vitamin B12 deficiency, which can result in a range of health problems, including anemia, fatigue, neurological symptoms, and developmental delays in children.
Ribonucleotide Reductases (RNRs) are enzymes that play a crucial role in DNA synthesis and repair. They catalyze the conversion of ribonucleotides to deoxyribonucleotides, which are the building blocks of DNA. This process involves the reduction of the 2'-hydroxyl group of the ribose sugar to a hydrogen, resulting in the formation of deoxyribose.
RNRs are highly regulated and exist in various forms across different species. They are divided into three classes (I, II, and III) based on their structure, mechanism, and cofactor requirements. Class I RNRs are further divided into two subclasses (Ia and Ib), which differ in their active site architecture and regulation.
Class Ia RNRs, found in eukaryotes and some bacteria, contain a stable tyrosyl radical that acts as the catalytic center for hydrogen abstraction. Class Ib RNRs, found in many bacteria, use a pair of iron centers to perform the same function. Class II RNRs are present in some bacteria and archaea and utilize adenosine triphosphate (ATP) as a cofactor for reduction. Class III RNRs, found in anaerobic bacteria and archaea, use a unique mechanism involving a radical S-adenosylmethionine (SAM) cofactor to facilitate the reduction reaction.
RNRs are essential for DNA replication and repair, and their dysregulation has been linked to various diseases, including cancer and neurodegenerative disorders. Therefore, understanding the structure, function, and regulation of RNRs is of great interest in biochemistry, molecular biology, and medicine.
Alcohol oxidoreductases are a class of enzymes that catalyze the oxidation of alcohols to aldehydes or ketones, while reducing nicotinamide adenine dinucleotide (NAD+) to NADH. These enzymes play an important role in the metabolism of alcohols and other organic compounds in living organisms.
The most well-known example of an alcohol oxidoreductase is alcohol dehydrogenase (ADH), which is responsible for the oxidation of ethanol to acetaldehyde in the liver during the metabolism of alcoholic beverages. Other examples include aldehyde dehydrogenases (ALDH) and sorbitol dehydrogenase (SDH).
These enzymes are important targets for the development of drugs used to treat alcohol use disorder, as inhibiting their activity can help to reduce the rate of ethanol metabolism and the severity of its effects on the body.
Pyridoxine is the chemical name for Vitamin B6. According to the medical definition, Pyridoxine is a water-soluble vitamin that is part of the B-vitamin complex and is essential for the metabolism of proteins, carbohydrates, and fats. It plays a vital role in the regulation of homocysteine levels in the body, the formation of neurotransmitters such as serotonin and dopamine, and the synthesis of hemoglobin.
Pyridoxine can be found naturally in various foods, including whole grains, legumes, vegetables, nuts, seeds, meat, poultry, and fish. It is also available as a dietary supplement and may be prescribed by healthcare providers to treat or prevent certain medical conditions, such as vitamin B6 deficiency, anemia, seizures, and carpal tunnel syndrome.
Like other water-soluble vitamins, Pyridoxine cannot be stored in the body and must be replenished regularly through diet or supplementation. Excessive intake of Pyridoxine can lead to toxicity symptoms such as nerve damage, skin lesions, and light sensitivity.
A dietary supplement is a product that contains nutrients, such as vitamins, minerals, amino acids, herbs or other botanicals, and is intended to be taken by mouth, to supplement the diet. Dietary supplements can include a wide range of products, such as vitamin and mineral supplements, herbal supplements, and sports nutrition products.
Dietary supplements are not intended to treat, diagnose, cure, or alleviate the effects of diseases. They are intended to be used as a way to add extra nutrients to the diet or to support specific health functions. It is important to note that dietary supplements are not subject to the same rigorous testing and regulations as drugs, so it is important to choose products carefully and consult with a healthcare provider if you have any questions or concerns about using them.
NADH, NADPH oxidoreductases are a class of enzymes that catalyze the redox reaction between NADH or NADPH and various electron acceptors. These enzymes play a crucial role in cellular metabolism by transferring electrons from NADH or NADPH to other molecules, which is essential for many biochemical reactions.
NADH (nicotinamide adenine dinucleotide hydrogen) and NADPH (nicotinamide adenine dinucleotide phosphate hydrogen) are coenzymes that act as electron carriers in redox reactions. They consist of a nicotinamide ring, which undergoes reduction or oxidation by accepting or donating electrons and a proton (H+).
NADH, NADPH oxidoreductases are classified based on their structure and mechanism of action. Some examples include:
1. Dehydrogenases: These enzymes catalyze the oxidation of NADH or NADPH to NAD+ or NADP+ while reducing an organic substrate. Examples include lactate dehydrogenase, alcohol dehydrogenase, and malate dehydrogenase.
2. Oxidases: These enzymes catalyze the oxidation of NADH or NADPH to NAD+ or NADP+ while reducing molecular oxygen (O2) to water (H2O). Examples include NADH oxidase and NADPH oxidase.
3. Reductases: These enzymes catalyze the reduction of various electron acceptors using NADH or NADPH as a source of electrons. Examples include glutathione reductase, thioredoxin reductase, and nitrate reductase.
Overall, NADH, NADPH oxidoreductases are essential for maintaining the redox balance in cells and play a critical role in various metabolic pathways, including energy production, detoxification, and biosynthesis.
A diet, in medical terms, refers to the planned and regular consumption of food and drinks. It is a balanced selection of nutrient-rich foods that an individual eats on a daily or periodic basis to meet their energy needs and maintain good health. A well-balanced diet typically includes a variety of fruits, vegetables, whole grains, lean proteins, and low-fat dairy products.
A diet may also be prescribed for therapeutic purposes, such as in the management of certain medical conditions like diabetes, hypertension, or obesity. In these cases, a healthcare professional may recommend specific restrictions or modifications to an individual's regular diet to help manage their condition and improve their overall health.
It is important to note that a healthy and balanced diet should be tailored to an individual's age, gender, body size, activity level, and any underlying medical conditions. Consulting with a healthcare professional, such as a registered dietitian or nutritionist, can help ensure that an individual's dietary needs are being met in a safe and effective way.
Colorectal neoplasms refer to abnormal growths in the colon or rectum, which can be benign or malignant. These growths can arise from the inner lining (mucosa) of the colon or rectum and can take various forms such as polyps, adenomas, or carcinomas.
Benign neoplasms, such as hyperplastic polyps and inflammatory polyps, are not cancerous but may need to be removed to prevent the development of malignant tumors. Adenomas, on the other hand, are precancerous lesions that can develop into colorectal cancer if left untreated.
Colorectal cancer is a malignant neoplasm that arises from the uncontrolled growth and division of cells in the colon or rectum. It is one of the most common types of cancer worldwide and can spread to other parts of the body through the bloodstream or lymphatic system.
Regular screening for colorectal neoplasms is recommended for individuals over the age of 50, as early detection and removal of precancerous lesions can significantly reduce the risk of developing colorectal cancer.
Fluorodeoxyuridylate (FdU) is not a medical term itself, but it is a chemical compound that plays a role in the mechanism of action of certain chemotherapeutic drugs. FdU is a thymidine analogue, which means it is a synthetic molecule similar to one of the building blocks of DNA called thymidine.
FdU can be incorporated into DNA during replication, leading to the inhibition of DNA synthesis and ultimately cell death. This mechanism of action is shared by several chemotherapeutic drugs, such as fluorouracil (5-FU) and capecitabine, which are converted into FdU in the body.
Therefore, while Fluorodeoxyuridylate itself is not a medical term, it is an important concept in understanding how certain chemotherapeutic drugs work to inhibit cancer cell growth and division.
Flavin-Adenine Dinucleotide (FAD) is a coenzyme that plays a crucial role in various metabolic processes, particularly in the electron transport chain where it functions as an electron carrier in oxidation-reduction reactions. FAD is composed of a flavin moiety, riboflavin or vitamin B2, and adenine dinucleotide. It can exist in two forms: an oxidized form (FAD) and a reduced form (FADH2). The reduction of FAD to FADH2 involves the gain of two electrons and two protons, which is accompanied by a significant conformational change that allows FADH2 to donate its electrons to subsequent components in the electron transport chain, ultimately leading to the production of ATP, the main energy currency of the cell.
A heterozygote is an individual who has inherited two different alleles (versions) of a particular gene, one from each parent. This means that the individual's genotype for that gene contains both a dominant and a recessive allele. The dominant allele will be expressed phenotypically (outwardly visible), while the recessive allele may or may not have any effect on the individual's observable traits, depending on the specific gene and its function. Heterozygotes are often represented as 'Aa', where 'A' is the dominant allele and 'a' is the recessive allele.
Nitrite reductases are a group of enzymes that catalyze the reduction of nitrite (NO2-) to nitric oxide (NO). This reaction is an important part of the nitrogen cycle, particularly in denitrification and dissimilatory nitrate reduction to ammonium (DNRA) processes. Nitrite reductases can be classified into two main types based on their metal co-factors: copper-containing nitrite reductases (CuNiRs) and cytochrome cd1 nitrite reductases. CuNiRs are typically found in bacteria and fungi, while cytochrome cd1 nitrite reductases are primarily found in bacteria. These enzymes play a crucial role in the global nitrogen cycle and have potential implications for environmental and medical research.
I am not aware of a specific medical definition for the term "China." Generally, it is used to refer to:
1. The People's Republic of China (PRC), which is a country in East Asia. It is the most populous country in the world and the fourth largest by geographical area. Its capital city is Beijing.
2. In a historical context, "China" was used to refer to various dynasties and empires that existed in East Asia over thousands of years. The term "Middle Kingdom" or "Zhongguo" (中国) has been used by the Chinese people to refer to their country for centuries.
3. In a more general sense, "China" can also be used to describe products or goods that originate from or are associated with the People's Republic of China.
If you have a specific context in which you encountered the term "China" related to medicine, please provide it so I can give a more accurate response.
DNA Mutational Analysis is a laboratory test used to identify genetic variations or changes (mutations) in the DNA sequence of a gene. This type of analysis can be used to diagnose genetic disorders, predict the risk of developing certain diseases, determine the most effective treatment for cancer, or assess the likelihood of passing on an inherited condition to offspring.
The test involves extracting DNA from a patient's sample (such as blood, saliva, or tissue), amplifying specific regions of interest using polymerase chain reaction (PCR), and then sequencing those regions to determine the precise order of nucleotide bases in the DNA molecule. The resulting sequence is then compared to reference sequences to identify any variations or mutations that may be present.
DNA Mutational Analysis can detect a wide range of genetic changes, including single-nucleotide polymorphisms (SNPs), insertions, deletions, duplications, and rearrangements. The test is often used in conjunction with other diagnostic tests and clinical evaluations to provide a comprehensive assessment of a patient's genetic profile.
It is important to note that not all mutations are pathogenic or associated with disease, and the interpretation of DNA Mutational Analysis results requires careful consideration of the patient's medical history, family history, and other relevant factors.
Glutathione reductase (GR) is an enzyme that plays a crucial role in maintaining the cellular redox state. The primary function of GR is to reduce oxidized glutathione (GSSG) to its reduced form (GSH), which is an essential intracellular antioxidant. This enzyme utilizes nicotinamide adenine dinucleotide phosphate (NADPH) as a reducing agent in the reaction, converting it to NADP+. The medical definition of Glutathione Reductase is:
Glutathione reductase (GSR; EC 1.8.1.7) is a homodimeric flavoprotein that catalyzes the reduction of oxidized glutathione (GSSG) to reduced glutathione (GSH) in the presence of NADPH as a cofactor. This enzyme is essential for maintaining the cellular redox balance and protecting cells from oxidative stress by regenerating the active form of glutathione, a vital antioxidant and detoxifying agent.
Flavin Mononucleotide (FMN) Reductase is an enzyme that catalyzes the reduction of FMN to FMNH2 using NADH or NADPH as an electron donor. This enzyme plays a crucial role in the electron transport chain and is involved in various redox reactions within the cell. It is found in many organisms, including bacteria, fungi, plants, and animals. In humans, FMN Reductase is encoded by the RIBFLR gene and is primarily located in the mitochondria. Defects in this enzyme can lead to various metabolic disorders.
Tetrahydrofolate dehydrogenase (EC 1.5.1.20) is an enzyme involved in folate metabolism. The enzyme catalyzes the oxidation of tetrahydrofolate (THF) to dihydrofolate (DHF), while simultaneously reducing NADP+ to NADPH.
The reaction can be summarized as follows:
THF + NADP+ -> DHF + NADPH + H+
This enzyme plays a crucial role in the synthesis of purines and thymidylate, which are essential components of DNA and RNA. Therefore, any defects or deficiencies in tetrahydrofolate dehydrogenase can lead to various medical conditions, including megaloblastic anemia and neural tube defects during fetal development.
DNA methylation is a process by which methyl groups (-CH3) are added to the cytosine ring of DNA molecules, often at the 5' position of cytospine phosphate-deoxyguanosine (CpG) dinucleotides. This modification is catalyzed by DNA methyltransferase enzymes and results in the formation of 5-methylcytosine.
DNA methylation plays a crucial role in the regulation of gene expression, genomic imprinting, X chromosome inactivation, and suppression of transposable elements. Abnormal DNA methylation patterns have been associated with various diseases, including cancer, where tumor suppressor genes are often silenced by promoter methylation.
In summary, DNA methylation is a fundamental epigenetic modification that influences gene expression and genome stability, and its dysregulation has important implications for human health and disease.
Genetic association studies are a type of epidemiological research that aims to identify statistical associations between genetic variations and particular traits or diseases. These studies typically compare the frequency of specific genetic markers, such as single nucleotide polymorphisms (SNPs), in individuals with a given trait or disease to those without it.
The goal of genetic association studies is to identify genetic factors that contribute to the risk of developing common complex diseases, such as diabetes, heart disease, or cancer. By identifying these genetic associations, researchers hope to gain insights into the underlying biological mechanisms of these diseases and develop new strategies for prevention, diagnosis, and treatment.
It's important to note that while genetic association studies can identify statistical associations between genetic markers and traits or diseases, they cannot prove causality. Further research is needed to confirm and validate these findings and to understand the functional consequences of the identified genetic variants.
Thioredoxin-disulfide reductase (Txnrd, TrxR) is an enzyme that belongs to the pyridine nucleotide-disulfide oxidoreductase family. It plays a crucial role in maintaining the intracellular redox balance by reducing disulfide bonds in proteins and keeping them in their reduced state. This enzyme utilizes NADPH as an electron donor to reduce thioredoxin (Trx), which then transfers its electrons to various target proteins, thereby regulating their activity, protein folding, and antioxidant defense mechanisms.
Txnrd is essential for several cellular processes, including DNA synthesis, gene expression, signal transduction, and protection against oxidative stress. Dysregulation of Txnrd has been implicated in various pathological conditions, such as cancer, neurodegenerative diseases, and inflammatory disorders. Therefore, understanding the function and regulation of this enzyme is of great interest for developing novel therapeutic strategies.
A confidence interval (CI) is a range of values that is likely to contain the true value of a population parameter with a certain level of confidence. It is commonly used in statistical analysis to express the uncertainty associated with estimates derived from sample data.
For example, if we calculate a 95% confidence interval for the mean height of a population based on a sample of individuals, we can say that we are 95% confident that the true population mean height falls within the calculated range. The width of the confidence interval gives us an idea of how precise our estimate is - narrower intervals indicate more precise estimates, while wider intervals suggest greater uncertainty.
Confidence intervals are typically calculated using statistical formulas that take into account the sample size, standard deviation, and level of confidence desired. They can be used to compare different groups or to evaluate the effectiveness of interventions in medical research.
NADPH-ferrihemoprotein reductase, also known as diaphorase or NO synthase reductase, is an enzyme that catalyzes the reduction of ferrihemoproteins using NADPH as a reducing cofactor. This reaction plays a crucial role in various biological processes such as the detoxification of certain compounds and the regulation of cellular signaling pathways.
The systematic name for this enzyme is NADPH:ferrihemoprotein oxidoreductase, and it belongs to the family of oxidoreductases that use NADH or NADPH as electron donors. The reaction catalyzed by this enzyme can be represented as follows:
NADPH + H+ + ferrihemoprotein ↔ NADP+ + ferrohemoprotein
In this reaction, the ferric (FeIII) form of hemoproteins is reduced to its ferrous (FeII) form by accepting electrons from NADPH. This enzyme is widely distributed in various tissues and organisms, including bacteria, fungi, plants, and animals. It has been identified as a component of several multi-enzyme complexes involved in different metabolic pathways, such as nitric oxide synthase (NOS) and cytochrome P450 reductase.
In summary, NADPH-ferrihemoprotein reductase is an essential enzyme that catalyzes the reduction of ferrihemoproteins using NADPH as a reducing agent, playing a critical role in various biological processes and metabolic pathways.
In the context of medicine and pharmacology, "kinetics" refers to the study of how a drug moves throughout the body, including its absorption, distribution, metabolism, and excretion (often abbreviated as ADME). This field is called "pharmacokinetics."
1. Absorption: This is the process of a drug moving from its site of administration into the bloodstream. Factors such as the route of administration (e.g., oral, intravenous, etc.), formulation, and individual physiological differences can affect absorption.
2. Distribution: Once a drug is in the bloodstream, it gets distributed throughout the body to various tissues and organs. This process is influenced by factors like blood flow, protein binding, and lipid solubility of the drug.
3. Metabolism: Drugs are often chemically modified in the body, typically in the liver, through processes known as metabolism. These changes can lead to the formation of active or inactive metabolites, which may then be further distributed, excreted, or undergo additional metabolic transformations.
4. Excretion: This is the process by which drugs and their metabolites are eliminated from the body, primarily through the kidneys (urine) and the liver (bile).
Understanding the kinetics of a drug is crucial for determining its optimal dosing regimen, potential interactions with other medications or foods, and any necessary adjustments for special populations like pediatric or geriatric patients, or those with impaired renal or hepatic function.
Genetic variation refers to the differences in DNA sequences among individuals and populations. These variations can result from mutations, genetic recombination, or gene flow between populations. Genetic variation is essential for evolution by providing the raw material upon which natural selection acts. It can occur within a single gene, between different genes, or at larger scales, such as differences in the number of chromosomes or entire sets of chromosomes. The study of genetic variation is crucial in understanding the genetic basis of diseases and traits, as well as the evolutionary history and relationships among species.
Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.
Pharmacogenetics is a branch of pharmacology that deals with the study of genetic factors that influence an individual's response to drugs. It involves the examination of how variations in genes encoding drug-metabolizing enzymes, transporters, receptors, and other targets affect drug absorption, distribution, metabolism, excretion, and efficacy, as well as the incidence and severity of adverse reactions.
The goal of pharmacogenetics is to optimize drug therapy by tailoring it to an individual's genetic makeup, thereby improving treatment outcomes, reducing adverse effects, and minimizing healthcare costs. This field has significant implications for personalized medicine, as it may help identify patients who are more likely to benefit from certain medications or who are at increased risk of toxicity, allowing for more informed prescribing decisions.
A base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.
Cytochrome reductases are a group of enzymes that play a crucial role in the electron transport chain, a process that occurs in the mitochondria of cells and is responsible for generating energy in the form of ATP (adenosine triphosphate). Specifically, cytochrome reductases are responsible for transferring electrons from one component of the electron transport chain to another, specifically to cytochromes.
There are several types of cytochrome reductases, including NADH dehydrogenase (also known as Complex I), succinate dehydrogenase (also known as Complex II), and ubiquinone-cytochrome c reductase (also known as Complex III). These enzymes help to facilitate the flow of electrons through the electron transport chain, which is essential for the production of ATP and the maintenance of cellular homeostasis.
Defects in cytochrome reductases can lead to a variety of mitochondrial diseases, which can affect multiple organ systems and may be associated with symptoms such as muscle weakness, developmental delays, and cardiac dysfunction.
Pteroylpolyglutamic acids are forms of folic acid that are composed of multiple glutamic acid molecules linked together in a chain. This compound is also known as polyglutamated folate or folylpolyglutamates. The length of the glutamic acid chain can vary, and these compounds are often found naturally in foods such as leafy green vegetables, fruits, and dried beans.
In the body, pteroylpolyglutamic acids must be converted to the active form of folate, called tetrahydrofolate, before they can participate in various metabolic processes, including DNA synthesis and methylation reactions. Some people may have difficulty absorbing or converting these compounds due to genetic factors or certain medical conditions, which can lead to folate deficiency and related health problems.
It's worth noting that supplemental forms of folic acid are typically in the form of a single glutamate molecule (pteroylmonoglutamic acid) and may not be as effective at raising folate levels in the body as the polyglutamated forms found in food. However, the monoglutamate form is more easily absorbed and utilized by the body, making it a common choice for supplementation.
Pregnancy is a physiological state or condition where a fertilized egg (zygote) successfully implants and grows in the uterus of a woman, leading to the development of an embryo and finally a fetus. This process typically spans approximately 40 weeks, divided into three trimesters, and culminates in childbirth. Throughout this period, numerous hormonal and physical changes occur to support the growing offspring, including uterine enlargement, breast development, and various maternal adaptations to ensure the fetus's optimal growth and well-being.
In the context of medicine, risk is the probability or likelihood of an adverse health effect or the occurrence of a negative event related to treatment or exposure to certain hazards. It is usually expressed as a ratio or percentage and can be influenced by various factors such as age, gender, lifestyle, genetics, and environmental conditions. Risk assessment involves identifying, quantifying, and prioritizing risks to make informed decisions about prevention, mitigation, or treatment strategies.
Vascular diseases are medical conditions that affect the circulatory system, specifically the blood vessels (arteries, veins, and capillaries). These diseases can include conditions such as:
1. Atherosclerosis: The buildup of fats, cholesterol, and other substances in and on the walls of the arteries, which can restrict blood flow.
2. Peripheral Artery Disease (PAD): A condition caused by atherosclerosis where there is narrowing or blockage of the peripheral arteries, most commonly in the legs. This can lead to pain, numbness, and cramping.
3. Coronary Artery Disease (CAD): Atherosclerosis of the coronary arteries that supply blood to the heart muscle. This can lead to chest pain, shortness of breath, or a heart attack.
4. Carotid Artery Disease: Atherosclerosis of the carotid arteries in the neck that supply blood to the brain. This can increase the risk of stroke.
5. Cerebrovascular Disease: Conditions that affect blood flow to the brain, including stroke and transient ischemic attack (TIA or "mini-stroke").
6. Aneurysm: A weakened area in the wall of a blood vessel that causes it to bulge outward and potentially rupture.
7. Deep Vein Thrombosis (DVT): A blood clot that forms in the deep veins, usually in the legs, which can cause pain, swelling, and increased risk of pulmonary embolism if the clot travels to the lungs.
8. Varicose Veins: Swollen, twisted, and often painful veins that have filled with an abnormal collection of blood, usually appearing in the legs.
9. Vasculitis: Inflammation of the blood vessels, which can cause damage and narrowing, leading to reduced blood flow.
10. Raynaud's Phenomenon: A condition where the small arteries that supply blood to the skin become narrowed, causing decreased blood flow, typically in response to cold temperatures or stress.
These are just a few examples of vascular conditions that fall under the umbrella term "cerebrovascular disease." Early diagnosis and treatment can significantly improve outcomes for many of these conditions.
Dihydropteridine reductase is an enzyme that plays a crucial role in the metabolism of certain amino acids, specifically phenylalanine and tyrosine. This enzyme is responsible for reducing dihydropteridines to tetrahydropteridines, which is a necessary step in the regeneration of tetrahydrobiopterin (BH4), an essential cofactor for the enzymes phenylalanine hydroxylase and tyrosine hydroxylase.
Phenylalanine hydroxylase and tyrosine hydroxylase are involved in the conversion of the amino acids phenylalanine and tyrosine to tyrosine and dopa, respectively. Without sufficient BH4, these enzymes cannot function properly, leading to an accumulation of phenylalanine and a decrease in the levels of important neurotransmitters such as dopamine, norepinephrine, and serotonin.
Deficiency in dihydropteridine reductase can lead to a rare genetic disorder known as dihydropteridine reductase deficiency (DPRD), which is characterized by elevated levels of phenylalanine and neurotransmitter imbalances, resulting in neurological symptoms such as developmental delay, seizures, and hypotonia. Treatment typically involves a low-phenylalanine diet and supplementation with BH4.
Enzyme stability refers to the ability of an enzyme to maintain its structure and function under various environmental conditions, such as temperature, pH, and the presence of denaturants or inhibitors. A stable enzyme retains its activity and conformation over time and across a range of conditions, making it more suitable for industrial and therapeutic applications.
Enzymes can be stabilized through various methods, including chemical modification, immobilization, and protein engineering. Understanding the factors that affect enzyme stability is crucial for optimizing their use in biotechnology, medicine, and research.
A haplotype is a group of genes or DNA sequences that are inherited together from a single parent. It refers to a combination of alleles (variant forms of a gene) that are located on the same chromosome and are usually transmitted as a unit. Haplotypes can be useful in tracing genetic ancestry, understanding the genetic basis of diseases, and developing personalized medical treatments.
In population genetics, haplotypes are often used to study patterns of genetic variation within and between populations. By comparing haplotype frequencies across populations, researchers can infer historical events such as migrations, population expansions, and bottlenecks. Additionally, haplotypes can provide information about the evolutionary history of genes and genomic regions.
In clinical genetics, haplotypes can be used to identify genetic risk factors for diseases or to predict an individual's response to certain medications. For example, specific haplotypes in the HLA gene region have been associated with increased susceptibility to certain autoimmune diseases, while other haplotypes in the CYP450 gene family can affect how individuals metabolize drugs.
Overall, haplotypes provide a powerful tool for understanding the genetic basis of complex traits and diseases, as well as for developing personalized medical treatments based on an individual's genetic makeup.
I'm sorry for any confusion, but "Japan" is not a medical term. Japan is the name of a country, officially known as Nippon-koku or Nihon-koku in Japanese, and is located in East Asia. It is an island nation in the Pacific Ocean with a population of about 126 million people.
If you have any medical questions or terms that you would like me to define, please let me know!
Reference values, also known as reference ranges or reference intervals, are the set of values that are considered normal or typical for a particular population or group of people. These values are often used in laboratory tests to help interpret test results and determine whether a patient's value falls within the expected range.
The process of establishing reference values typically involves measuring a particular biomarker or parameter in a large, healthy population and then calculating the mean and standard deviation of the measurements. Based on these statistics, a range is established that includes a certain percentage of the population (often 95%) and excludes extreme outliers.
It's important to note that reference values can vary depending on factors such as age, sex, race, and other demographic characteristics. Therefore, it's essential to use reference values that are specific to the relevant population when interpreting laboratory test results. Additionally, reference values may change over time due to advances in measurement technology or changes in the population being studied.
S-Adenosylhomocysteine (SAH) is a metabolic byproduct formed from the demethylation of various compounds or from the breakdown of S-adenosylmethionine (SAM), which is a major methyl group donor in the body. SAH is rapidly hydrolyzed to homocysteine and adenosine by the enzyme S-adenosylhomocysteine hydrolase. Increased levels of SAH can inhibit many methyltransferases, leading to disturbances in cellular metabolism and potential negative health effects.
A cohort study is a type of observational study in which a group of individuals who share a common characteristic or exposure are followed up over time to determine the incidence of a specific outcome or outcomes. The cohort, or group, is defined based on the exposure status (e.g., exposed vs. unexposed) and then monitored prospectively to assess for the development of new health events or conditions.
Cohort studies can be either prospective or retrospective in design. In a prospective cohort study, participants are enrolled and followed forward in time from the beginning of the study. In contrast, in a retrospective cohort study, researchers identify a cohort that has already been assembled through medical records, insurance claims, or other sources and then look back in time to assess exposure status and health outcomes.
Cohort studies are useful for establishing causality between an exposure and an outcome because they allow researchers to observe the temporal relationship between the two. They can also provide information on the incidence of a disease or condition in different populations, which can be used to inform public health policy and interventions. However, cohort studies can be expensive and time-consuming to conduct, and they may be subject to bias if participants are not representative of the population or if there is loss to follow-up.
List of MeSH codes (D08)
Biosynthesis
MTHFR 677 TT genotype in a mother and her child with Down syndrome, atrioventricular canal and exstrophy of the bladder:...
Nitrite reductases. Medical search
Facultad de Medicina - Research output - Universidad de los Andes
Arpana Agrawal - Research output - Research Profiles at Washington University School of Medicine
José Antonio Arraztoa - Fingerprint - Universidad de los Andes
Magdalena Maria Martinez Aguero - Fingerprint - Universidad del Rosario
Methylenetetrahydrofolate reductase (MTHFR): The incidence of mutations C677T and A1298C in the Ashkenazi Jewish population<...
Lack of carotid stiffening associated with MTHFR 677TT genotype in cardiorespiratory fit adults<...
Associations between two common variants C677T and A1298C in the methylenetetrahydrofolate reductase gene and measures of...
PRIME PubMed | Folate, vitamin B12 and Homocysteine status in the post-folic acid fortification era in different subgroups of...
Homocysteine and coronary heart disease: meta-analysis of MTHFR case-control studies, avoiding publication bias. - Clinical...
Quantitative analysis of DNA methylation after whole bisulfitome amplification of a minute amount of DNA from body fluids. -...
MTHFR 677C--|T polymorphism and risk of coronary heart disease: a meta-analysis. - China Kadoorie Biobank (CKB)
Search - NeL.edu
MeSH Browser
DeCS 2004 - Novos termos
DeCS 2004 - Nuevos términos
DeCS 2004 - Nuevos términos
DeCS 2004 - Nuevos términos
DeCS 2004 - New terms
DeCS 2004 - Novos termos
DeCS 2004 - Novos termos
DeCS 2004 - New terms
DeCS 2004 - Nuevos términos
DeCS 2004 - New terms
DeCS 2004 - Nuevos términos
DeCS 2004 - New terms
DeCS 2004 - New terms
Nutrition Evidence
MTHFR6
- The TT genotype of C677T polymorphism in 5,10-methylenetetrahydrofolate reductase (MTHFR) induces elevation of homocysteine level and leads to atherosclerosis and arterial stiffening. (elsevierpure.com)
- Objective: Homozygosity for variants of the methylenetetrahydrofolate reductase (MTHFR) gene is associated with decreased risk for colorectal cancer. (elsevierpure.com)
- Conclusion: Data from this study do not support the hypothesis that polymorphisms in the MTHFR gene increase DNA stability by sequestering 5,10-methylenetetrahydrofolate for thymidine synthesis and reducing uracil misincorporation into DNA. (elsevierpure.com)
- When folate levels are low, the TT genotype of the common C677T polymorphism (rs1801133) of the methylene tetrahydrofolate reductase gene (MTHFR) appreciably increases homocysteine levels, so "Mendelian randomization" studies using this variant as an instrumental variable could help test causality. (ox.ac.uk)
- Methylenetetrahydrofolate reductase (MTHFR) links the folate cycle to the methionine cycle in one-carbon metabolism. (instem.res.in)
- Herein, the association between acetaldehyde dehydrogenase 2 (ALDH2) and methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and hypertension was analyzed among Hakka population in southern China . (bvsalud.org)
Polymorphism1
- Esophageal cancer patients carrying methylenetetrahydrofolate reductase 677TT polymorphism had higher risk of death from the disease. (revistaabcd.org.br)
Genotype1
- Polymorphic homozygote genotype methylenetetrahydrofolate reductase 677TT was associated with higher risk of death after surgical treatment for esophageal cancer. (revistaabcd.org.br)
Folate metabolism1
- The enzyme methylenetetrahydrofolate reductase is engaged in DNA synthesis through folate metabolism. (revistaabcd.org.br)
Cobalamin1
- The association of gastric cancer risk with plasma folate, cobalamin, and methylenetetrahydrofolate reductase polymorphisms in the European Prospective Investigation into Cancer and Nutrition. (ox.ac.uk)
Folate1
- Crystal structure of dihydrofolate reductase from the filarial nematode W. bancrofti in complex with NADPH and folate. (edu.ni)
Events1
- Scholars@Duke publication: Association between factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T mutations and events of the arterial circulatory system: a meta-analysis of published studies. (duke.edu)