Acetyltransferases
Amino Acids
Sequence Homology, Amino Acid
Histone Acetyltransferases
Choline O-Acetyltransferase
Chloramphenicol O-Acetyltransferase
Amino Acid Sequence
Cloning, Molecular
Base Sequence
Molecular Sequence Data
Amino Acid Substitution
p300-CBP Transcription Factors
Carnitine O-Acetyltransferase
Serine O-Acetyltransferase
N-Terminal Acetyltransferase A
Transcription, Genetic
N-Terminal Acetyltransferase E
Mutation
Binding Sites
Escherichia coli
Amino Acids, Essential
Dihydrolipoyllysine-Residue Acetyltransferase
Promoter Regions, Genetic
Sequence Alignment
Plasmids
Amino Acid Transport Systems
Acetyl Coenzyme A
Amino Acid Motifs
Mutagenesis, Site-Directed
Restriction Mapping
Transfection
Sequence Homology, Nucleic Acid
Protein Binding
DNA, Complementary
DNA
Substrate Specificity
RNA, Messenger
Recombinant Fusion Proteins
Protein Structure, Tertiary
Histones
Saccharomyces cerevisiae Proteins
Models, Molecular
Peptide Fragments
Transcription Factors
Protein Conformation
Structure-Activity Relationship
Saccharomyces cerevisiae
Gene Expression Regulation
DNA-Binding Proteins
Peptides
Genes
Electrophoresis, Polyacrylamide Gel
CREB-Binding Protein
DNA Primers
Nuclear Proteins
Sequence Analysis, DNA
Pyruvate Dehydrogenase Complex
Conserved Sequence
Protein Biosynthesis
Proteins
E1A-Associated p300 Protein
Carrier Proteins
Gene Expression
Transcriptional Activation
HeLa Cells
Spermine
N-Terminal Acetyltransferases
Protein Structure, Secondary
Alanine
N-Terminal Acetyltransferase B
Blotting, Northern
Species Specificity
Polymerase Chain Reaction
Trans-Activators
Regulatory Sequences, Nucleic Acid
Cells, Cultured
Chromatography, High Pressure Liquid
Gene Expression Regulation, Enzymologic
Cattle
Open Reading Frames
Codon
Spermidine
Mutagenesis
Vesicular Acetylcholine Transport Proteins
Amino Acid Transport Systems, Basic
Liver
Point Mutation
Isoleucine
Biological Transport
Gene Library
Macromolecular Substances
Cysteine Synthase
Catalysis
Glycine
Trypsin
Acetyl-CoA C-Acetyltransferase
Tumor Cells, Cultured
Sequence Analysis
Protein Processing, Post-Translational
Oligodeoxyribonucleotides
Genetic Complementation Test
Blotting, Southern
Genes, Reporter
Cyanogen Bromide
Cell Nucleus
Genes, Regulator
Chromatin
Chickens
Oligonucleotide Probes
Enhancer Elements, Genetic
Glutamine
Membrane Proteins
Acyltransferases
Rabbits
Valine
Exons
Cricetinae
Excitatory Amino Acids
Chromatography, Gel
COS Cells
Acetylcholinesterase
Chloramphenicol
Multigene Family
Consensus Sequence
Aspartic Acid
Nitrogen
Phenotype
Serine
Proline
Threonine
Geobacillus stearothermophilus
Chromosome Mapping
Evolution, Molecular
Phenylalanine
Chromatography, Ion Exchange
Temperature
Amino Acid Transport System A
Plant Proteins
Chloramphenicol Resistance
Repressor Proteins
Tryptophan
Isoenzymes
Repetitive Sequences, Nucleic Acid
Anacardic Acids
Enzyme Induction
Swine
Mass Spectrometry
Crystallography, X-Ray
Enzyme Stability
Glucosamine 6-Phosphate N-Acetyltransferase
Catalytic Domain
Gene Deletion
Protein Sorting Signals
Introns
Endopeptidases
Hydrogen-Ion Concentration
DNA, Recombinant
Organ Specificity
Gene Expression Regulation, Fungal
Phosphorylation
Protein Kinases
Amino-Acid N-Acetyltransferase
Genetic Vectors
Sequence Analysis, Protein
Cercopithecus aethiops
Precipitin Tests
Blotting, Western
Brain
Tissue Distribution
A new yeast metabolon involving at least the two first enzymes of arginine biosynthesis: acetylglutamate synthase activity requires complex formation with acetylglutamate kinase. (1/65)
Open reading frame YJL071W of Saccharomyces cerevisiae was shown to be ARG2 and identified as the structural gene for acetylglutamate synthase, first step in arginine biosynthesis. The three Ascomycete acetylglutamate synthases characterized to date appear homologous, but unlike the other enzymes of the yeast arginine biosynthesis pathway, they showed no significant similarity to their prokaryotic equivalents. The measured synthase activity did not increase with the number of ARG2 gene copies unless the number of ARG5,6 gene copies was increased similarly. ARG5,6 encodes a precursor that is maturated in the mitochondria into acetylglutamate kinase and acetylglutamyl-phosphate reductase, catalyzing the second and third steps in the pathway. The results imply that the synthase must interact stoichiometrically in vivo with the kinase, the reductase, or both to be active. Results obtained with synthetic ARG5 and ARG6 genes suggested that both the kinase and the reductase could be needed. This situation, which has completely escaped notice in yeast until now, is reminiscent of the observation in Neurospora crassa that nonsense arg-6 kinase/reductase mutants lack synthase activity (Hinde, R. W., Jacobson, J. A., Weiss, R. L., and Davis, R. H. (1986) J. Biol. Chem. 261, 5848-5852). In immunoprecipitation experiments, hemagglutinin-tagged synthase coprecipitated with a protein proven by microsequencing to be the kinase. Western blot analyses showed that the synthase has reduced stability in the absence of the kinase/reductase. Our data demonstrate the existence of a new yeast arginine metabolon involving at least the first two, and possibly the first three, enzymes of the pathway. Hypotheses regarding the biological significance of this interaction are discussed. (+info)Identification, cloning and expression of the mouse N-acetylglutamate synthase gene. (2/65)
In ureotelic animals, N-acetylglutamate (NAG) is an essential allosteric activator of carbamylphosphate synthetase I (CPSI), the first enzyme in the urea cycle. NAG synthase (NAGS; EC 2.3.1.1) catalyses the formation of NAG from glutamate and acetyl-CoA in liver and intestinal mitochondria. This enzyme is supposed to regulate ureagenesis by producing variable amounts of NAG, thus modulating CPSI activity. Moreover, inherited deficiencies in NAGS have been associated with hyperammonaemia, probably due to the loss of CPSI activity. Although the existence of the NAGS protein in mammals has been known for decades, the gene has remained elusive. We identified the mouse (Mus musculus) and human NAGS genes using their similarity to the respective Neurospora crassa gene. NAGS was cloned from a mouse liver cDNA library and was found to encode a 2.3 kb message, highly expressed in liver and small intestine with lower expression levels in kidney, spleen and testis. The deduced amino acid sequence contains a putative mitochondrial targeting signal at the N-terminus. The cDNA sequence complements an argA (NAGS)-deficient Escherichia coli strain, reversing its arginine auxotrophy. His-tagged versions of the pre-protein and two putative mature proteins were each overexpressed in E. coli, and purified to apparent homogeneity by using a nickel-affinity column. The pre-protein and the two putative mature proteins catalysed the NAGS reaction but one of the putative mature enzymes had significantly higher activity than the pre-protein. The addition of l-arginine increased the catalytic activity of the purified recombinant NAGS enzymes by approx. 2-6-fold. (+info)The N-acetylglutamate synthase/N-acetylglutamate kinase metabolon of Saccharomyces cerevisiae allows co-ordinated feedback regulation of the first two steps in arginine biosynthesis. (3/65)
In Saccharomyces cerevisiae, which uses the nonlinear pathway of arginine biosynthesis, the first two enzymes, N-acetylglutamate synthase (NAGS) and N-acetylglutamate kinase (NAGK), are controlled by feedback inhibition. We have previously shown that NAGS and NAGK associate in a complex, essential to synthase activity and protein level [Abadjieva, A., Pauwels, K., Hilven, P. & Crabeel, M. (2001) J. Biol. Chem.276, 42869-42880]. The NAGKs of ascomycetes possess, in addition to the catalytic domain that is shared by all other NAGKs and whose structure has been determined, a C-terminal domain of unknown function and structure. Exploring the role of these two domains in the synthase/kinase interaction, we demonstrate that the ascomycete-specific domain is required to maintain synthase activity and protein level. Previous results had suggested a participation of the third enzyme of the pathway, N-acetylglutamylphosphate reductase, in the metabolon. Here, genetic analyses conducted in yeast at physiological level, or in a heterologous background, clearly demonstrate that the reductase is dispensable for synthase activity and protein level. Most importantly, we show that the arginine feedback regulation of the NAGS and NAGK enzymes is mutually interdependent. First, the kinase becomes less sensitive to arginine feedback inhibition in the absence of the synthase. Second, and as in Neurospora crassa, in a yeast kinase mutant resistant to arginine feedback inhibition, the synthase becomes feedback resistant concomitantly. We conclude that the NAGS/NAGK metabolon promotes the co-ordination of the catalytic activities and feedback regulation of the first two, flux controlling, enzymes of the arginine pathway. (+info)Mammalian N-acetylglutamate synthase. (4/65)
N-Acetylglutamate synthase (NAGS, E.C. 2.3.1.1) is a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG), an essential allosteric activator of carbamylphosphate synthetase I (CPSI). The mouse and human NAGS genes have been identified based on similarity to regions of NAGS from Neurospora crassa and cloned from liver cDNA libraries. These genes were shown to complement an argA- (NAGS) deficient Escherichia coli strain, and enzymatic activity of the proteins was confirmed by a new stable isotope dilution assay. The deduced amino acid sequence of mammalian NAGS contains a putative mitochondrial-targeting signal at the N-terminus. The mouse NAGS preprotein was overexpressed in insect cells to determine post-translational modifications and two processed proteins with different N-terminal truncations have been identified. Sequence analysis using a hidden Markov model suggests that the vertebrate NAGS protein contains domains with a carbamate kinase fold and an acyl-CoA N-acyltransferase fold, and protein crystallization experiments are currently underway. Inherited NAGS deficiency results in hyperammonemia, presumably due to the loss of CPSI activity. We, and others, have recently identified mutations in families with neonatal and late-onset NAGS deficiency and the identification of the gene has now made carrier testing and prenatal diagnosis feasible. A structural analog of NAG, carbamylglutamate, has been shown to bind and activate CPSI, and several patients have been reported to respond favorably to this drug (Carbaglu). (+info)Functional characterization of a novel ArgA from Mycobacterium tuberculosis. (5/65)
The Mycobacterium tuberculosis gene Rv2747 encodes a novel 19-kDa ArgA that catalyzes the initial step in L-arginine biosynthesis, namely the conversion of L-glutamate to alpha-N-acetyl-L-glutamate. Initial velocity studies reveal that Rv2747 proceeds through a sequential kinetic mechanism, with K(m) values of 280 mM for L-glutamine and 150 microM for acetyl-coenzyme A and with a k(cat) value of 200 min(-1). Initial velocity studies with L-glutamate showed that even at concentrations of 600 mM, saturation was not observed. Therefore, only a k(cat)/K(m) value of 125 M(-1) min(-1) can be calculated. Inhibition studies reveal that the enzyme is strongly regulated by L-arginine, the end product of the pathway (50% inhibitory concentration, 26 microM). The enzyme was completely inhibited by 500 microM arginine, with a Hill coefficient of 0.60, indicating negatively cooperative binding of L-arginine. (+info)Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies. (6/65)
The mitochondrial enzyme N-acetylglutamate synthase (NAGS) produces N-acetylglutamate serving as an allosteric activator of carbamylphosphate synthetase 1, the first enzyme of the urea cycle. Autosomal recessively inherited NAGS deficiency (NAGSD) leads to severe neonatal or late-onset hyperammonemia. To date few patients have been described and the gene involved was described only recently. In this study, another three families affected by NAGSD were analyzed for NAGS gene mutations resulting in the identification of three novel missense mutations (C200R [c.598T > C], S410P [c.1228T > C], A518T [c.1552G > A]). In order to investigate the effects of these three and two additional previously published missense mutations on enzyme activity, the mutated proteins were overexpressed in a bacterial expression system using the NAGS deficient E. coli strain NK5992. All mutated proteins showed a severe decrease in enzyme activity providing evidence for the disease-causing nature of the mutations. In addition, we expressed the full-length NAGS wild type protein including the mitochondrial leading sequence, the mature protein as well as a highly conserved core protein. NAGS activity was detected in all three recombinant proteins but varied regarding activity levels and response to stimulation by l-arginine. In conclusion, overexpression of wild type and mutated NAGS proteins in E. coli provides a suitable tool for functional analysis of NAGS deficiency. (+info)Translocation of a long amino-terminal domain through ER membrane by following signal-anchor sequence. (7/65)
Type I signal-anchor sequences mediate translocation of the N-terminal domain (N-domain) across the endoplasmic reticulum (ER) membrane. To examine the translocation in detail, dihydrofolate reductase (DHFR) was fused to the N-terminus of synaptotagmin II as a long N-domain. Translocation was arrested by the DHFR ligand methotrexate, which stabilizes the folding of the DHFR domain, and resumed after depletion of methotrexate. The targeting of the ribosome-nascent chain complex to the ER requires GTP, whereas N-domain translocation does not require any nucleotide triphosphates. Significant translocation was observed even in the absence of a lumenal hsp70 (BiP). When the nascent polypeptide was released from the ribosomes after the membrane targeting, the N-domain translocation was suppressed and the nascent chain was released from the translocon. Ribosomes have a crucial role in maintaining the translocation-intermediate state. The translocation of the DHFR domain was greatly impaired when it was separated from the signal-anchor sequence. Unfolding and translocation of the DHFR domain must be driven by the stroke of the signal-anchor sequence into translocon. (+info)Involvement of LuxR, a quorum sensing regulator in Vibrio harveyi, in the promotion of metabolic genes: argA, purM, lysE and rluA. (8/65)
Quorum sensing, involving signal transduction via the two-component response regulator LuxO to its downstream target LuxR, controls luminescence in the marine bacterium Vibrio harveyi. LuxR is a DNA binding protein that acts as both activator of the lux operon and repressor of its own gene. In order to determine if any other genes are affected by quorum sensing in V. harveyi, an assay for luxR-dependent promotion was devised using a genomic library maintained in a novel luxAB (luciferase) reporter. Screening in Escherichia coli DH-21 (lacI(sq)) entailed the addition of a second plasmid containing luxR under plac control. Four out of 5000 colonies showed luminescence stimulation upon IPTG induction of luxR. The four luxR-dependent promoters were upstream of argA, purM, lysE, and rluA, genes involved in arginine and purine biosyntheses, amino acid efflux, and pseudouridine synthesis, respectively. Based on analysis of luxR-dependent promoters, particularly that of argA, we describe a LuxR binding site, and implicate the coordination of LuxR with ArgR. (+info)Some common effects of chromosomal deletions include:
1. Genetic disorders: Chromosomal deletions can lead to a variety of genetic disorders, such as Down syndrome, which is caused by a deletion of a portion of chromosome 21. Other examples include Prader-Willi syndrome (deletion of chromosome 15), and Williams syndrome (deletion of chromosome 7).
2. Birth defects: Chromosomal deletions can increase the risk of birth defects, such as heart defects, cleft palate, and limb abnormalities.
3. Developmental delays: Children with chromosomal deletions may experience developmental delays, learning disabilities, and intellectual disability.
4. Increased cancer risk: Some chromosomal deletions can increase the risk of developing certain types of cancer, such as chronic myelogenous leukemia (CML) and breast cancer.
5. Reproductive problems: Chromosomal deletions can lead to reproductive problems, such as infertility or recurrent miscarriage.
Chromosomal deletions can be diagnosed through a variety of techniques, including karyotyping (examination of the chromosomes), fluorescence in situ hybridization (FISH), and microarray analysis. Treatment options for chromosomal deletions depend on the specific effects of the deletion and may include medication, surgery, or other forms of therapy.
The diagnosis of Rubinstein-Taybi syndrome is based on a combination of clinical findings and genetic testing. Treatment for the condition typically involves a multidisciplinary approach, including physical therapy, speech therapy, and special education to address developmental delays and intellectual disability. In some cases, surgery may be necessary to correct congenital abnormalities or other medical issues.
The prognosis for Rubinstein-Taybi syndrome varies depending on the severity of the condition and the presence of any additional medical issues. Some individuals with the condition may have a relatively mild impact on their quality of life, while others may experience more significant challenges. Early diagnosis and intervention are important to help manage the condition and improve outcomes for affected individuals.
The following is a list of common features and characteristics associated with Rubinstein-Taybi syndrome:
1. Distinctive facial features, such as wide-set eyes, a small head, and a flat nasal bridge
2. Intellectual disability, ranging from mild to severe
3. Speech difficulties, including delayed speech development and difficulty articulating words
4. Congenital abnormalities, such as heart defects or limb differences
5. Short stature and small hands and feet
6. Delayed physical development, including delayed walking and sitting
7. Increased risk of infections due to immune system dysfunction
8. Vision and hearing problems
9. Sleep apnea and other respiratory issues
10. Behavioral challenges, such as anxiety and hyperactivity
It's important to note that every individual with Rubinstein-Taybi syndrome is unique and may experience a different combination of these features and characteristics. Some individuals may also have additional medical conditions or complications that can impact their quality of life. Early diagnosis and intervention are crucial to help manage the condition and improve outcomes for affected individuals.
There are several types of inborn errors of amino acid metabolism, including:
1. Phenylketonuria (PKU): This is the most common inborn error of amino acid metabolism and is caused by a deficiency of the enzyme phenylalanine hydroxylase. This enzyme is needed to break down the amino acid phenylalanine, which is found in many protein-containing foods. If phenylalanine is not properly broken down, it can build up in the blood and brain and cause serious health problems.
2. Maple syrup urine disease (MSUD): This is a rare genetic disorder that affects the breakdown of the amino acids leucine, isoleucine, and valine. These amino acids are important for growth and development, but if they are not properly broken down, they can build up in the blood and cause serious health problems.
3. Homocystinuria: This is a rare genetic disorder that affects the breakdown of the amino acid methionine. Methionine is important for the body's production of proteins and other compounds, but if it is not properly broken down, it can build up in the blood and cause serious health problems.
4. Arginase deficiency: This is a rare genetic disorder that affects the breakdown of the amino acid arginine. Arginine is important for the body's production of nitric oxide, a compound that helps to relax blood vessels and improve blood flow.
5. Citrullinemia: This is a rare genetic disorder that affects the breakdown of the amino acid citrulline. Citrulline is important for the body's production of proteins and other compounds, but if it is not properly broken down, it can build up in the blood and cause serious health problems.
6. Tyrosinemia: This is a rare genetic disorder that affects the breakdown of the amino acid tyrosine. Tyrosine is important for the body's production of proteins and other compounds, but if it is not properly broken down, it can build up in the blood and cause serious health problems.
7. Maple syrup urine disease (MSUD): This is a rare genetic disorder that affects the breakdown of the amino acids leucine, isoleucine, and valine. These amino acids are important for growth and development, but if they are not properly broken down, they can build up in the blood and cause serious health problems.
8. PKU (phenylketonuria): This is a rare genetic disorder that affects the breakdown of the amino acid phenylalanine. Phenylalanine is important for the body's production of proteins and other compounds, but if it is not properly broken down, it can build up in the blood and cause serious health problems.
9. Methionine adenosyltransferase (MAT) deficiency: This is a rare genetic disorder that affects the breakdown of the amino acid methionine. Methionine is important for the body's production of proteins and other compounds, but if it is not properly broken down, it can build up in the blood and cause serious health problems.
10. Homocystinuria: This is a rare genetic disorder that affects the breakdown of the amino acid homocysteine. Homocysteine is important for the body's production of proteins and other compounds, but if it is not properly broken down, it can build up in the blood and cause serious health problems.
It is important to note that these disorders are rare and affect a small percentage of the population. However, they can be serious and potentially life-threatening, so it is important to be aware of them and seek medical attention if symptoms persist or worsen over time.
Ectromelia can be caused by genetic mutations or exposure to certain chemicals during pregnancy. Treatment for ectromelia typically involves managing the symptoms and addressing any underlying conditions. This may include medication to promote skin growth, physical therapy to improve mobility and strength, and speech and language therapy to improve communication skills. In severe cases, surgery may be necessary to repair malformed limbs or other physical abnormalities.
Ectromelia is also known as ectodermal dysplasia, a group of disorders that affect the ectodermal layers of the body (skin, hair, nails, and nervous system). The condition is relatively rare, occurring in approximately 1 in 100,000 births. With appropriate medical care and support, many individuals with ectromelia are able to lead fulfilling lives despite their physical limitations.
Examples of experimental liver neoplasms include:
1. Hepatocellular carcinoma (HCC): This is the most common type of primary liver cancer and can be induced experimentally by injecting carcinogens such as diethylnitrosamine (DEN) or dimethylbenz(a)anthracene (DMBA) into the liver tissue of animals.
2. Cholangiocarcinoma: This type of cancer originates in the bile ducts within the liver and can be induced experimentally by injecting chemical carcinogens such as DEN or DMBA into the bile ducts of animals.
3. Hepatoblastoma: This is a rare type of liver cancer that primarily affects children and can be induced experimentally by administering chemotherapy drugs to newborn mice or rats.
4. Metastatic tumors: These are tumors that originate in other parts of the body and spread to the liver through the bloodstream or lymphatic system. Experimental models of metastatic tumors can be studied by injecting cancer cells into the liver tissue of animals.
The study of experimental liver neoplasms is important for understanding the underlying mechanisms of liver cancer development and progression, as well as identifying potential therapeutic targets for the treatment of this disease. Animal models can be used to test the efficacy of new drugs or therapies before they are tested in humans, which can help to accelerate the development of new treatments for liver cancer.
There are several different types of congenital myasthenic syndromes, each with its own unique set of symptoms and characteristics. Some of the most common include:
* Congenital myasthenic syndrome type 1 (CMS1): This is the most common type of CMS and is caused by a mutation in the CHRNA1 gene. It is characterized by muscle weakness, poor feeding, and delays in development.
* Congenital myasthenic syndrome type 2 (CMS2): This type is caused by a mutation in the CHRNB1 gene and is characterized by muscle weakness, cognitive impairment, and seizures.
* Congenital myasthenic syndrome type 3 (CMS3): This type is caused by a mutation in the MAP2 gene and is characterized by muscle weakness, developmental delays, and intellectual disability.
There is currently no cure for congenital myasthenic syndromes, but various treatments can help manage the symptoms. These may include physical therapy, occupational therapy, speech therapy, and medications such as acetylcholinesterase inhibitors and steroids. In some cases, a bone marrow transplant may be necessary.
The prognosis for individuals with congenital myasthenic syndromes varies depending on the specific type and severity of the disorder. Some individuals may have mild symptoms and lead relatively normal lives, while others may have more severe symptoms and require ongoing medical care and support. With appropriate treatment and management, many individuals with CMS can lead fulfilling lives.
1) They share similarities with humans: Many animal species share similar biological and physiological characteristics with humans, making them useful for studying human diseases. For example, mice and rats are often used to study diseases such as diabetes, heart disease, and cancer because they have similar metabolic and cardiovascular systems to humans.
2) They can be genetically manipulated: Animal disease models can be genetically engineered to develop specific diseases or to model human genetic disorders. This allows researchers to study the progression of the disease and test potential treatments in a controlled environment.
3) They can be used to test drugs and therapies: Before new drugs or therapies are tested in humans, they are often first tested in animal models of disease. This allows researchers to assess the safety and efficacy of the treatment before moving on to human clinical trials.
4) They can provide insights into disease mechanisms: Studying disease models in animals can provide valuable insights into the underlying mechanisms of a particular disease. This information can then be used to develop new treatments or improve existing ones.
5) Reduces the need for human testing: Using animal disease models reduces the need for human testing, which can be time-consuming, expensive, and ethically challenging. However, it is important to note that animal models are not perfect substitutes for human subjects, and results obtained from animal studies may not always translate to humans.
6) They can be used to study infectious diseases: Animal disease models can be used to study infectious diseases such as HIV, TB, and malaria. These models allow researchers to understand how the disease is transmitted, how it progresses, and how it responds to treatment.
7) They can be used to study complex diseases: Animal disease models can be used to study complex diseases such as cancer, diabetes, and heart disease. These models allow researchers to understand the underlying mechanisms of the disease and test potential treatments.
8) They are cost-effective: Animal disease models are often less expensive than human clinical trials, making them a cost-effective way to conduct research.
9) They can be used to study drug delivery: Animal disease models can be used to study drug delivery and pharmacokinetics, which is important for developing new drugs and drug delivery systems.
10) They can be used to study aging: Animal disease models can be used to study the aging process and age-related diseases such as Alzheimer's and Parkinson's. This allows researchers to understand how aging contributes to disease and develop potential treatments.
There are several risk factors for developing HCC, including:
* Cirrhosis, which can be caused by heavy alcohol consumption, viral hepatitis (such as hepatitis B and C), or fatty liver disease
* Family history of liver disease
* Chronic obstructive pulmonary disease (COPD)
* Diabetes
* Obesity
HCC can be challenging to diagnose, as the symptoms are non-specific and can be similar to those of other conditions. However, some common symptoms of HCC include:
* Yellowing of the skin and eyes (jaundice)
* Fatigue
* Loss of appetite
* Abdominal pain or discomfort
* Weight loss
If HCC is suspected, a doctor may perform several tests to confirm the diagnosis, including:
* Imaging tests, such as ultrasound, CT scan, or MRI, to look for tumors in the liver
* Blood tests to check for liver function and detect certain substances that are produced by the liver
* Biopsy, which involves removing a small sample of tissue from the liver to examine under a microscope
Once HCC is diagnosed, treatment options will depend on several factors, including the stage and location of the cancer, the patient's overall health, and their personal preferences. Treatment options may include:
* Surgery to remove the tumor or parts of the liver
* Ablation, which involves destroying the cancer cells using heat or cold
* Chemoembolization, which involves injecting chemotherapy drugs into the hepatic artery to reach the cancer cells
* Targeted therapy, which uses drugs or other substances to target specific molecules that are involved in the growth and spread of the cancer
Overall, the prognosis for HCC is poor, with a 5-year survival rate of approximately 20%. However, early detection and treatment can improve outcomes. It is important for individuals at high risk for HCC to be monitored regularly by a healthcare provider, and to seek medical attention if they experience any symptoms.
1. Activation of oncogenes: Some viruses contain genes that code for proteins that can activate existing oncogenes in the host cell, leading to uncontrolled cell growth.
2. Inactivation of tumor suppressor genes: Other viruses may contain genes that inhibit the expression of tumor suppressor genes, allowing cells to grow and divide uncontrollably.
3. Insertional mutagenesis: Some viruses can insert their own DNA into the host cell's genome, leading to disruptions in normal cellular function and potentially causing cancer.
4. Epigenetic changes: Viral infection can also cause epigenetic changes, such as DNA methylation or histone modification, that can lead to the silencing of tumor suppressor genes and the activation of oncogenes.
Viral cell transformation is a key factor in the development of many types of cancer, including cervical cancer caused by human papillomavirus (HPV), and liver cancer caused by hepatitis B virus (HBV). In addition, some viruses are specifically known to cause cancer, such as Kaposi's sarcoma-associated herpesvirus (KSHV) and Merkel cell polyomavirus (MCV).
Early detection and treatment of viral infections can help prevent the development of cancer. Vaccines are also available for some viruses that are known to cause cancer, such as HPV and hepatitis B. Additionally, antiviral therapy can be used to treat existing infections and may help reduce the risk of cancer development.
Neuroblastoma is caused by a genetic mutation that affects the development and growth of nerve cells. The cancerous cells are often sensitive to chemotherapy, but they can be difficult to remove surgically because they are deeply embedded in the nervous system.
There are several different types of neuroblastoma, including:
1. Infantile neuroblastoma: This type of neuroblastoma occurs in children under the age of one and is often more aggressive than other types of the cancer.
2. Juvenile neuroblastoma: This type of neuroblastoma occurs in children between the ages of one and five and tends to be less aggressive than infantile neuroblastoma.
3. Adult neuroblastoma: This type of neuroblastoma occurs in adults and is rare.
4. Metastatic neuroblastoma: This type of neuroblastoma has spread to other parts of the body, such as the bones or liver.
Symptoms of neuroblastoma can vary depending on the location and size of the tumor, but they may include:
* Abdominal pain
* Fever
* Loss of appetite
* Weight loss
* Fatigue
* Bone pain
* Swelling in the abdomen or neck
* Constipation
* Increased heart rate
Diagnosis of neuroblastoma typically involves a combination of imaging tests, such as CT scans and MRI scans, and biopsies to confirm the presence of cancerous cells. Treatment for neuroblastoma usually involves a combination of chemotherapy, surgery, and radiation therapy. The prognosis for neuroblastoma varies depending on the type of cancer, the age of the child, and the stage of the disease. In general, the younger the child and the more aggressive the treatment, the better the prognosis.
Body weight is an important health indicator, as it can affect an individual's risk for certain medical conditions, such as obesity, diabetes, and cardiovascular disease. Maintaining a healthy body weight is essential for overall health and well-being, and there are many ways to do so, including a balanced diet, regular exercise, and other lifestyle changes.
There are several ways to measure body weight, including:
1. Scale: This is the most common method of measuring body weight, and it involves standing on a scale that displays the individual's weight in kg or lb.
2. Body fat calipers: These are used to measure body fat percentage by pinching the skin at specific points on the body.
3. Skinfold measurements: This method involves measuring the thickness of the skin folds at specific points on the body to estimate body fat percentage.
4. Bioelectrical impedance analysis (BIA): This is a non-invasive method that uses electrical impulses to measure body fat percentage.
5. Dual-energy X-ray absorptiometry (DXA): This is a more accurate method of measuring body composition, including bone density and body fat percentage.
It's important to note that body weight can fluctuate throughout the day due to factors such as water retention, so it's best to measure body weight at the same time each day for the most accurate results. Additionally, it's important to use a reliable scale or measuring tool to ensure accurate measurements.
Explanation: Neoplastic cell transformation is a complex process that involves multiple steps and can occur as a result of genetic mutations, environmental factors, or a combination of both. The process typically begins with a series of subtle changes in the DNA of individual cells, which can lead to the loss of normal cellular functions and the acquisition of abnormal growth and reproduction patterns.
Over time, these transformed cells can accumulate further mutations that allow them to survive and proliferate despite adverse conditions. As the transformed cells continue to divide and grow, they can eventually form a tumor, which is a mass of abnormal cells that can invade and damage surrounding tissues.
In some cases, cancer cells can also break away from the primary tumor and travel through the bloodstream or lymphatic system to other parts of the body, where they can establish new tumors. This process, known as metastasis, is a major cause of death in many types of cancer.
It's worth noting that not all transformed cells will become cancerous. Some forms of cellular transformation, such as those that occur during embryonic development or tissue regeneration, are normal and necessary for the proper functioning of the body. However, when these transformations occur in adult tissues, they can be a sign of cancer.
See also: Cancer, Tumor
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Hartnup disease is a rare genetic disorder that affects the body's ability to absorb vitamin B12 (cobalamin) and other nutrients. It is caused by a mutation in the HCN1 gene, which codes for a protein involved in the transport of cobalamin into the cells.
Symptoms of Hartnup Disease:
The symptoms of Hartnup disease can vary in severity and may include:
* Fatigue
* Weakness
* Pale skin
* Shortness of breath
* Dizziness
* Headaches
* Numbness or tingling in the hands and feet
* Seizures
* Poor appetite
* Diarrhea
Complications of Hartnup Disease:
If left untreated, Hartnup disease can lead to complications such as:
* Anemia (low red blood cell count)
* Nerve damage
* Skin problems
* Eye problems
* Hearing loss
* Increased risk of infections
Treatment of Hartnup Disease:
The treatment of Hartnup disease typically involves a combination of dietary changes and supplements. Patients with the condition may need to follow a strict diet that includes foods high in vitamin B12, such as meat, fish, and dairy products. They may also need to take supplements to ensure they are getting enough of this important nutrient. In some cases, medication may be prescribed to help manage symptoms.
Prognosis of Hartnup Disease:
The prognosis for Hartnup disease is generally good if the condition is diagnosed and treated early. With proper management, most patients with Hartnup disease can lead active and healthy lives. However, if left untreated, the condition can have serious complications that can be difficult to reverse.
Inheritance Pattern of Hartnup Disease:
Hartnup disease is an autosomal recessive disorder, which means that a person must inherit two copies of the mutated HCN1 gene (one from each parent) in order to develop the condition. If a person inherits only one copy of the mutated gene, they will be a carrier of the condition but are unlikely to develop symptoms themselves. Carriers of Hartnup disease can pass the mutated gene on to their children, who have a 25% chance of inheriting two copies of the gene and developing the condition.
Prevention of Hartnup Disease:
There is no known prevention for Hartnup disease. However, if a person knows they are a carrier of the condition, they can work with their healthcare provider to ensure they are getting enough vitamin B12 and monitoring their diet to prevent any complications.
In conclusion, Hartnup disease is a rare genetic disorder that affects the absorption of vitamin B12 in the small intestine. It can cause a range of symptoms, including diarrhea, abdominal pain, and fatigue. Treatment typically involves a combination of dietary changes and supplements, and early diagnosis and management can lead to a good prognosis. However, if left untreated, the condition can have serious complications. If you suspect you or someone you know may be experiencing symptoms of Hartnup disease, it is important to speak with a healthcare provider for proper diagnosis and treatment.
Cystinuria is caused by mutations in the SLC7A9 gene, which codes for a protein involved in the transport of cystine across the brush border membrane of renal tubular cells. The disorder is inherited in an autosomal recessive pattern, meaning that affected individuals must inherit two copies of the mutated gene (one from each parent) to develop symptoms.
There is no cure for cystinuria, but various treatments can help manage its symptoms. These may include medications to reduce the acidity of the urine and prevent infection, as well as surgical procedures to remove stones or repair damaged kidneys. In some cases, a kidney transplant may be necessary.
It's important for individuals with cystinuria to drink plenty of water and maintain good hydration to help flush out the urinary tract and prevent stone formation. They should also avoid certain foods that may increase the risk of stone formation, such as oxalate-rich foods like spinach and rhubarb.
Overall, while there is no cure for cystinuria, with proper management and care, individuals with this disorder can lead relatively normal lives and minimize the complications associated with it.
Some examples of musculoskeletal abnormalities include:
- Carpal tunnel syndrome: Compression of the median nerve in the wrist that can cause numbness, tingling, and weakness in the hand and arm.
- Kyphosis: An exaggerated curvature of the spine, often resulting from osteoporosis or other conditions that affect the bones.
- Osteoarthritis: Wear and tear on the joints, leading to pain, stiffness, and limited mobility.
- Clubfoot: A congenital deformity in which the foot is turned inward or outward.
- Scoliosis: An abnormal curvature of the spine that can be caused by genetics, injury, or other factors.
Musculoskeletal abnormalities can be diagnosed through physical examination, imaging tests such as X-rays and MRIs, and other diagnostic procedures. Treatment options vary depending on the specific condition but may include medication, physical therapy, braces or orthotics, or surgery in severe cases.
Liver neoplasms, also known as liver tumors or hepatic tumors, are abnormal growths of tissue in the liver. These growths can be benign (non-cancerous) or malignant (cancerous). Malignant liver tumors can be primary, meaning they originate in the liver, or metastatic, meaning they spread to the liver from another part of the body.
There are several types of liver neoplasms, including:
1. Hepatocellular carcinoma (HCC): This is the most common type of primary liver cancer and arises from the main cells of the liver (hepatocytes). HCC is often associated with cirrhosis and can be caused by viral hepatitis or alcohol abuse.
2. Cholangiocarcinoma: This type of cancer arises from the cells lining the bile ducts within the liver (cholangiocytes). Cholangiocarcinoma is rare and often diagnosed at an advanced stage.
3. Hemangiosarcoma: This is a rare type of cancer that originates in the blood vessels of the liver. It is most commonly seen in dogs but can also occur in humans.
4. Fibromas: These are benign tumors that arise from the connective tissue of the liver (fibrocytes). Fibromas are usually small and do not spread to other parts of the body.
5. Adenomas: These are benign tumors that arise from the glandular cells of the liver (hepatocytes). Adenomas are usually small and do not spread to other parts of the body.
The symptoms of liver neoplasms vary depending on their size, location, and whether they are benign or malignant. Common symptoms include abdominal pain, fatigue, weight loss, and jaundice (yellowing of the skin and eyes). Diagnosis is typically made through a combination of imaging tests such as CT scans, MRI scans, and ultrasound, and a biopsy to confirm the presence of cancer cells.
Treatment options for liver neoplasms depend on the type, size, location, and stage of the tumor, as well as the patient's overall health. Surgery may be an option for some patients with small, localized tumors, while others may require chemotherapy or radiation therapy to shrink the tumor before surgery can be performed. In some cases, liver transplantation may be necessary.
Prognosis for liver neoplasms varies depending on the type and stage of the cancer. In general, early detection and treatment improve the prognosis, while advanced-stage disease is associated with a poorer prognosis.
The symptoms of Alzheimer's disease can vary from person to person and may progress slowly over time. Early symptoms may include memory loss, confusion, and difficulty with problem-solving. As the disease progresses, individuals may experience language difficulties, visual hallucinations, and changes in mood and behavior.
There is currently no cure for Alzheimer's disease, but there are several medications and therapies that can help manage its symptoms and slow its progression. These include cholinesterase inhibitors, memantine, and non-pharmacological interventions such as cognitive training and behavioral therapy.
Alzheimer's disease is a significant public health concern, affecting an estimated 5.8 million Americans in 2020. It is the sixth leading cause of death in the United States, and its prevalence is expected to continue to increase as the population ages.
There is ongoing research into the causes and potential treatments for Alzheimer's disease, including studies into the role of inflammation, oxidative stress, and the immune system. Other areas of research include the development of biomarkers for early detection and the use of advanced imaging techniques to monitor progression of the disease.
Overall, Alzheimer's disease is a complex and multifactorial disorder that poses significant challenges for individuals, families, and healthcare systems. However, with ongoing research and advances in medical technology, there is hope for improving diagnosis and treatment options in the future.
Starvation is a condition where an individual's body does not receive enough nutrients to maintain proper bodily functions and growth. It can be caused by a lack of access to food, poverty, poor nutrition, or other factors that prevent the intake of sufficient calories and essential nutrients. Starvation can lead to severe health consequences, including weight loss, weakness, fatigue, and even death.
Types of Starvation:
There are several types of starvation, each with different causes and effects. These include:
1. Acute starvation: This occurs when an individual suddenly stops eating or has a limited access to food for a short period of time.
2. Chronic starvation: This occurs when an individual consistently does not consume enough calories and nutrients over a longer period of time, leading to gradual weight loss and other health problems.
3. Malnutrition starvation: This occurs when an individual's diet is deficient in essential nutrients, leading to malnutrition and other health problems.
4. Marasmus: This is a severe form of starvation that occurs in children, characterized by extreme weight loss, weakness, and wasting of muscles and organs.
5. Kwashiorkor: This is a form of malnutrition caused by a diet lacking in protein, leading to edema, diarrhea, and other health problems.
Effects of Starvation on the Body:
Starvation can have severe effects on the body, including:
1. Weight loss: Starvation causes weight loss, which can lead to a decrease in muscle mass and a loss of essential nutrients.
2. Fatigue: Starvation can cause fatigue, weakness, and a lack of energy, making it difficult to perform daily activities.
3. Weakened immune system: Starvation can weaken the immune system, making an individual more susceptible to illnesses and infections.
4. Nutrient deficiencies: Starvation can lead to a deficiency of essential nutrients, including vitamins and minerals, which can cause a range of health problems.
5. Increased risk of disease: Starvation can increase the risk of diseases such as tuberculosis, pellagra, and other infections.
6. Mental health issues: Starvation can lead to mental health issues such as depression, anxiety, and irritability.
7. Reproductive problems: Starvation can cause reproductive problems, including infertility and miscarriage.
8. Hair loss: Starvation can cause hair loss, which can be a sign of malnutrition.
9. Skin problems: Starvation can cause skin problems, such as dryness, irritation, and infections.
10. Increased risk of death: Starvation can lead to increased risk of death, especially in children and the elderly.
It is important to note that these effects can be reversed with proper nutrition and care. If you or someone you know is experiencing starvation, it is essential to seek medical attention immediately.
Examples of Urogenital Abnormalities:
1. Congenital Anomalies: Conditions that are present at birth and affect the urinary tract or genitalia, such as hypospadias (a condition where the urethra opens on the underside of the penis instead of the tip), undescended testes (testes that fail to descend into the scrotum), or interrupted or absent vas deferens (tubes that carry sperm from the epididymis to the penis).
2. Infections: Bacterial or viral infections that can cause urogenital abnormalities, such as pyelonephritis (a kidney infection) or prostatitis (an inflammation of the prostate gland).
3. Trauma: Injuries to the urinary tract or genitalia, such as those caused by sexual assault or accidents, can lead to urogenital abnormalities.
4. Neurological Conditions: Certain neurological conditions, such as spina bifida (a birth defect that affects the spine and spinal cord), can cause urogenital abnormalities.
5. Cancer: Cancer of the urinary tract or genitalia, such as bladder cancer or prostate cancer, can cause urogenital abnormalities.
Symptoms of Urogenital Abnormalities:
Depending on the specific condition, symptoms of urogenital abnormalities may include:
1. Difficulty urinating or painful urination
2. Blood in the urine or semen
3. Frequent urination or incontinence
4. Pain during sexual activity
5. Abnormalities in the shape or size of the genitalia
6. Testicular atrophy or swelling
7. Discharge from the vagina or penis
8. Foul-smelling urine
Diagnosis and Treatment of Urogenital Abnormalities:
Diagnosis of urogenital abnormalities typically involves a combination of physical examination, medical history, and diagnostic tests such as urinalysis, blood tests, and imaging studies (such as X-rays or ultrasound). Treatment depends on the specific condition causing the abnormality. Some common treatments include:
1. Medications to treat infections or inflammation
2. Surgery to repair or remove damaged tissue
3. Lifestyle changes, such as diet and exercise modifications
4. Pelvic floor exercises to strengthen the muscles that control urination and bowel movements
5. Assistive devices, such as catheters or prosthetic limbs
6. Hormone therapy to treat hormonal imbalances or gender identity issues.
The symptoms of choriocarcinoma can vary depending on the location and size of the tumor, but they may include:
* Abnormal vaginal bleeding
* Pelvic pain
* Abdominal pain
* Weakness and fatigue
* Shortness of breath
* Nausea and vomiting
If choriocarcinoma is suspected, a variety of tests may be performed to confirm the diagnosis. These may include:
* Ultrasound: This imaging test uses high-frequency sound waves to create pictures of the uterus and ovaries. It can help doctors identify any abnormal growths or tumors in the area.
* Hysteroscopy: This procedure involves inserting a thin, lighted tube through the cervix to visualize the inside of the uterus. Doctors may use hysteroscopy to collect samples of tissue for testing.
* Laparoscopy: This procedure involves making small incisions in the abdomen and using a thin, lighted tube to visualize the inside of the pelvis. Doctors may use laparoscopy to collect samples of tissue for testing or to remove any tumors that are found.
* Biopsy: In this test, doctors take a small sample of tissue from the uterus and examine it under a microscope for cancer cells.
If choriocarcinoma is confirmed, treatment may involve a combination of surgery, chemotherapy, and radiation therapy. The specific treatment plan will depend on the stage and location of the cancer, as well as the patient's overall health.
Prognosis for choriocarcinoma varies depending on the stage of the cancer when it is diagnosed. In general, the prognosis is good if the cancer is caught early and treated promptly. However, if the cancer has spread to other parts of the body (metastasized), the prognosis may be poorer.
It's important for women who have had a molar pregnancy or choriocarcinoma to follow up with their healthcare provider regularly to ensure that any remaining tissue is removed and to monitor for any signs of recurrence.
There are several types of PKU, including classic PKU, mild PKU, and hyperphenylalaninemia (HPA). Classic PKU is the most severe form of the disorder and is characterized by a complete deficiency of the enzyme phenylalanine hydroxylase (PAH), which is necessary for the breakdown of Phe. Mild PKU is characterized by a partial deficiency of PAH, while HPA is caused by a variety of other genetic defects that affect the breakdown of Phe.
Symptoms of PKU can vary depending on the severity of the disorder, but may include developmental delays, intellectual disability, seizures, and behavioral problems. If left untreated, PKU can lead to serious health complications such as brain damage, seizures, and even death.
The primary treatment for PKU is a strict diet that limits the intake of Phe. This typically involves avoiding foods that are high in Phe, such as meat, fish, eggs, and dairy products, and consuming specialized medical foods that are low in Phe. In some cases, medication may also be prescribed to help manage symptoms.
PKU is an autosomal recessive disorder, which means that it is inherited in an unusual way. Both parents must carry the genetic mutation that causes PKU, and each child has a 25% chance of inheriting the disorder. PKU can be diagnosed through newborn screening, which is typically performed soon after birth. Early diagnosis and treatment can help prevent or minimize the symptoms of PKU and improve quality of life for individuals with the disorder.
There are two main types of hemolysis:
1. Intravascular hemolysis: This type occurs within the blood vessels and is caused by factors such as mechanical injury, oxidative stress, and certain infections.
2. Extravascular hemolysis: This type occurs outside the blood vessels and is caused by factors such as bone marrow disorders, splenic rupture, and certain medications.
Hemolytic anemia is a condition that occurs when there is excessive hemolysis of RBCs, leading to a decrease in the number of healthy red blood cells in the body. This can cause symptoms such as fatigue, weakness, pale skin, and shortness of breath.
Some common causes of hemolysis include:
1. Genetic disorders such as sickle cell anemia and thalassemia.
2. Autoimmune disorders such as autoimmune hemolytic anemia (AIHA).
3. Infections such as malaria, babesiosis, and toxoplasmosis.
4. Medications such as antibiotics, nonsteroidal anti-inflammatory drugs (NSAIDs), and blood thinners.
5. Bone marrow disorders such as aplastic anemia and myelofibrosis.
6. Splenic rupture or surgical removal of the spleen.
7. Mechanical injury to the blood vessels.
Diagnosis of hemolysis is based on a combination of physical examination, medical history, and laboratory tests such as complete blood count (CBC), blood smear examination, and direct Coombs test. Treatment depends on the underlying cause and may include supportive care, blood transfusions, and medications to suppress the immune system or prevent infection.
Blepharophimosis can be associated with other conditions such as ptosis (drooping eyelid), amblyopia (lazy eye), or astigmatism. Treatment options for blepharophimosis depend on the underlying cause and may include surgery, glasses or contact lenses, or prism lenses to correct vision problems.
Surgical correction of blepharophimosis typically involves removing any excess skin or tissue that is causing the narrowing of the pretarsal fold. This can be done through an incision made on the upper eyelid or through a smaller incision using a laser. In some cases, the condition may be treated with injectable fillers to enhance the appearance of the pretarsal fold.
It's important to note that blepharophimosis is not a common condition and is often associated with other eye problems. If you suspect you or your child may have this condition, it's important to consult an ophthalmologist for proper diagnosis and treatment.
Also known as: aminoacyl-tRNA synthetase deficiency, aminoacyl-tRNA synthetase/tRNA synthetase deficiency, and amino acid transporter defects.
There are several types of melanoma, including:
1. Superficial spreading melanoma: This is the most common type of melanoma, accounting for about 70% of cases. It usually appears as a flat or slightly raised discolored patch on the skin.
2. Nodular melanoma: This type of melanoma is more aggressive and accounts for about 15% of cases. It typically appears as a raised bump on the skin, often with a darker color.
3. Acral lentiginous melanoma: This type of melanoma affects the palms of the hands, soles of the feet, or nail beds and accounts for about 5% of cases.
4. Lentigo maligna melanoma: This type of melanoma usually affects the face and is more common in older adults.
The risk factors for developing melanoma include:
1. Ultraviolet (UV) radiation exposure from the sun or tanning beds
2. Fair skin, light hair, and light eyes
3. A history of sunburns
4. Weakened immune system
5. Family history of melanoma
The symptoms of melanoma can vary depending on the type and location of the cancer. Common symptoms include:
1. Changes in the size, shape, or color of a mole
2. A new mole or growth on the skin
3. A spot or sore that bleeds or crusts over
4. Itching or pain on the skin
5. Redness or swelling around a mole
If melanoma is suspected, a biopsy will be performed to confirm the diagnosis. Treatment options for melanoma depend on the stage and location of the cancer and may include surgery, chemotherapy, radiation therapy, or a combination of these. Early detection and treatment are key to successful outcomes in melanoma cases.
In conclusion, melanoma is a type of skin cancer that can be deadly if not detected early. It is important to practice sun safety, perform regular self-exams, and seek medical attention if any suspicious changes are noticed on the skin. By being aware of the risk factors, symptoms, and treatment options for melanoma, individuals can take steps to protect themselves from this potentially deadly disease.
There are different types of Breast Neoplasms such as:
1. Fibroadenomas: These are benign tumors that are made up of glandular and fibrous tissues. They are usually small and round, with a smooth surface, and can be moved easily under the skin.
2. Cysts: These are fluid-filled sacs that can develop in both breast tissue and milk ducts. They are usually benign and can disappear on their own or be drained surgically.
3. Ductal Carcinoma In Situ (DCIS): This is a precancerous condition where abnormal cells grow inside the milk ducts. If left untreated, it can progress to invasive breast cancer.
4. Invasive Ductal Carcinoma (IDC): This is the most common type of breast cancer and starts in the milk ducts but grows out of them and invades surrounding tissue.
5. Invasive Lobular Carcinoma (ILC): It originates in the milk-producing glands (lobules) and grows out of them, invading nearby tissue.
Breast Neoplasms can cause various symptoms such as a lump or thickening in the breast or underarm area, skin changes like redness or dimpling, change in size or shape of one or both breasts, discharge from the nipple, and changes in the texture or color of the skin.
Treatment options for Breast Neoplasms may include surgery such as lumpectomy, mastectomy, or breast-conserving surgery, radiation therapy which uses high-energy beams to kill cancer cells, chemotherapy using drugs to kill cancer cells, targeted therapy which uses drugs or other substances to identify and attack cancer cells while minimizing harm to normal cells, hormone therapy, immunotherapy, and clinical trials.
It is important to note that not all Breast Neoplasms are cancerous; some are benign (non-cancerous) tumors that do not spread or grow.
There are several factors that can contribute to protein deficiency, including:
1. Poor diet: A diet that is lacking in protein-rich foods, such as meat, poultry, fish, eggs, dairy products, legumes, and nuts, can lead to protein deficiency.
2. Vegetarian or vegan diet: People who follow a vegetarian or vegan diet may be at risk of protein deficiency if they do not consume enough protein-rich plant-based foods.
3. Malabsorption: Certain medical conditions, such as celiac disease, can lead to malabsorption of proteins and other nutrients.
4. Pregnancy and breastfeeding: Women who are pregnant or breastfeeding have a higher protein requirement to support the growth and development of their baby.
5. Chronic diseases: Certain chronic diseases, such as kidney disease, can lead to protein deficiency.
Protein deficiency can cause a range of symptoms, including:
1. Fatigue and weakness
2. Muscle wasting and loss of muscle mass
3. Poor wound healing
4. Hair loss
5. Difficulty concentrating and making decisions
6. Mood changes, such as irritability and depression
7. Increased risk of infections
If protein deficiency is not treated, it can lead to a range of complications, including:
1. Stunted growth in children
2. Weakened immune system
3. Poor wound healing
4. Increased risk of infections
5. Nutrient deficiencies
6. Reproductive problems
7. Cardiovascular disease
Treatment for protein deficiency typically involves increasing the intake of protein-rich foods or supplements. The goal is to provide enough protein to support growth and development, as well as overall health and well-being. In some cases, medication may be prescribed to help manage symptoms or address underlying conditions.
In addition to dietary changes, other treatments for protein deficiency may include:
1. Nutritional supplements: Protein supplements can be taken to increase protein intake.
2. Vitamin and mineral supplements: If the protein deficiency is due to a lack of certain vitamins or minerals, supplements may be prescribed.
3. Hormone replacement therapy: In cases where protein deficiency is caused by hormonal imbalances, hormone replacement therapy may be recommended.
4. Medications: Certain medications, such as antidepressants or anti-anxiety drugs, may be prescribed to help manage symptoms of protein deficiency.
5. Addressing underlying conditions: If the protein deficiency is due to an underlying condition, such as kidney disease, treatment will focus on managing that condition.
Preventing protein deficiency is important for maintaining overall health and well-being. Here are some tips for preventing protein deficiency:
1. Eat a balanced diet: Include a variety of protein-rich foods in your diet, such as lean meats, fish, eggs, dairy products, legumes, and nuts.
2. Consult with a healthcare professional: If you are vegetarian or vegan, or if you have certain medical conditions, consult with a healthcare professional to ensure you are getting enough protein.
3. Consider supplements: If you are unable to get enough protein through your diet alone, consider taking protein supplements.
4. Monitor your symptoms: Pay attention to any symptoms of protein deficiency and seek medical attention if they persist or worsen over time.
Overall, preventing protein deficiency is important for maintaining overall health and well-being. If you suspect you or someone you know may have a protein deficiency, it is important to seek medical attention as soon as possible. With proper diagnosis and treatment, protein deficiency can be effectively managed and symptoms can improve.
There are different types of amnesia, including:
1. Retrograde amnesia: loss of memory of events that occurred before the onset of amnesia.
2. Anterograde amnesia: inability to form new memories after the onset of amnesia.
3. Transient global amnesia: temporary and reversible loss of memory due to a specific cause, such as a stroke or a head injury.
4. Korsakoff's syndrome: a condition caused by alcoholism and malnutrition that affects the hippocampus and the ability to form new memories.
5. Dissociative amnesia: loss of memory due to psychological trauma or stress, often accompanied by dissociation from reality.
The symptoms of amnesia can vary depending on the underlying cause and the severity of the condition. Some common symptoms include:
1. Difficulty learning new information
2. Forgetting recent events or conversations
3. Inability to recall past events or experiences
4. Confusion and disorientation
5. Difficulty with problem-solving and decision-making
The diagnosis of amnesia is based on a combination of medical history, physical examination, and neuropsychological tests. Imaging studies such as CT or MRI scans may also be used to rule out other causes of memory loss.
Treatment for amnesia depends on the underlying cause and may include:
1. Medications to manage symptoms such as anxiety, depression, or cognitive impairment.
2. Cognitive rehabilitation therapy to improve memory and problem-solving skills.
3. Behavioral interventions to help the individual adapt to their condition.
4. In some cases, surgery may be necessary to treat the underlying cause of amnesia, such as a tumor or a blood clot.
Overall, amnesia can have a significant impact on an individual's quality of life, but with proper diagnosis and treatment, many people are able to manage their symptoms and lead fulfilling lives.
There are several types of lung neoplasms, including:
1. Adenocarcinoma: This is the most common type of lung cancer, accounting for approximately 40% of all lung cancers. It is a malignant tumor that originates in the glands of the respiratory tract and can be found in any part of the lung.
2. Squamous cell carcinoma: This type of lung cancer accounts for approximately 25% of all lung cancers and is more common in men than women. It is a malignant tumor that originates in the squamous cells lining the airways of the lungs.
3. Small cell lung cancer (SCLC): This is a highly aggressive form of lung cancer that accounts for approximately 15% of all lung cancers. It is often found in the central parts of the lungs and can spread quickly to other parts of the body.
4. Large cell carcinoma: This is a rare type of lung cancer that accounts for only about 5% of all lung cancers. It is a malignant tumor that originates in the large cells of the respiratory tract and can be found in any part of the lung.
5. Bronchioalveolar carcinoma (BAC): This is a rare type of lung cancer that originates in the cells lining the airways and alveoli of the lungs. It is more common in women than men and tends to affect older individuals.
6. Lymphangioleiomyomatosis (LAM): This is a rare, progressive, and often fatal lung disease that primarily affects women of childbearing age. It is characterized by the growth of smooth muscle-like cells in the lungs and can lead to cysts, lung collapse, and respiratory failure.
7. Hamartoma: This is a benign tumor that originates in the tissue of the lungs and is usually found in children. It is characterized by an overgrowth of normal lung tissue and can be treated with surgery.
8. Secondary lung cancer: This type of cancer occurs when cancer cells from another part of the body spread to the lungs through the bloodstream or lymphatic system. It is more common in people who have a history of smoking or exposure to other carcinogens.
9. Metastatic cancer: This type of cancer occurs when cancer cells from another part of the body spread to the lungs through the bloodstream or lymphatic system. It is more common in people who have a history of smoking or exposure to other carcinogens.
10. Mesothelioma: This is a rare and aggressive form of cancer that originates in the lining of the lungs or abdomen. It is caused by asbestos exposure and can be treated with surgery, chemotherapy, and radiation therapy.
Lung diseases can also be classified based on their cause, such as:
1. Infectious diseases: These are caused by bacteria, viruses, or other microorganisms and can include pneumonia, tuberculosis, and bronchitis.
2. Autoimmune diseases: These are caused by an overactive immune system and can include conditions such as sarcoidosis and idiopathic pulmonary fibrosis.
3. Genetic diseases: These are caused by inherited mutations in genes that affect the lungs and can include cystic fibrosis and primary ciliary dyskinesia.
4. Environmental diseases: These are caused by exposure to harmful substances such as tobacco smoke, air pollution, and asbestos.
5. Radiological diseases: These are caused by exposure to ionizing radiation and can include conditions such as radiographic breast cancer and lung cancer.
6. Vascular diseases: These are caused by problems with the blood vessels in the lungs and can include conditions such as pulmonary embolism and pulmonary hypertension.
7. Tumors: These can be benign or malignant and can include conditions such as lung metastases and lung cancer.
8. Trauma: This can include injuries to the chest or lungs caused by accidents or other forms of trauma.
9. Congenital diseases: These are present at birth and can include conditions such as bronchopulmonary foregut malformations and congenital cystic adenomatoid malformation.
Each type of lung disease has its own set of symptoms, diagnosis, and treatment options. It is important to seek medical attention if you experience any persistent or severe respiratory symptoms, as early diagnosis and treatment can improve outcomes and quality of life.
D-amino-acid N-acetyltransferase
Choline acetyltransferase
Huntington's disease
Epigenetics in learning and memory
Peptide alpha-N-acetyltransferase
NatB acetyltransferase
Transferase
Serine O-acetyltransferase
Histone acetylation and deacetylation
Coiled-coil domain-containing 37 (FLJ40083)
Pyruvate dehydrogenase complex
FAM135B
Carnitine O-acetyltransferase
Histone H2B
Acetylglutamate synthetase
Aralkylamine N-acetyltransferase
Activating transcription factor 2
Protein acetylation
Tryptophan
Phenylacetylglutamine
Epigenomics
Histone acetyltransferase
N-acetylglutamate synthetase
N-acetyl-L-glutamate synthetase
Ghrelin O-acyltransferase
CREB-binding protein
CXorf49
Glufosinate
N-Acetylglutamate synthase
Glucosamine-phosphate N-acetyltransferase
Meldonium
Microtubule
Histone methyltransferase
Beta-Hydroxybutyric acid
Nuclear receptor
CUTL1
Nuclear receptor coactivator 2
Phenethylamine
MECOM
Melatonin
Agmatine
Acetylserotonin O-methyltransferase
GAT
Deficiency of RbAp48 protein and memory loss
C14orf102
Epigenetics of neurodegenerative diseases
Cystathionine beta synthase
EPHX1
Reprogramming
IPEX syndrome
N-acetyltransferase
Transfer DNA
Pinealocyte
Drug reaction with eosinophilia and systemic symptoms
Retinoid X receptor beta
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β-Catenin Knockdown Affects Mitochondrial Biogenesis and Lipid Metabolism in Breast Cancer Cells
Robert Casero | Johns Hopkins | Bloomberg School of Public Health
Fatty Acids1
- 16 this range (primarily cytochrome P-450 mediated oxidation to fatty acids and alcohols) is slow, while the aromatics are metabolized faster (oxidation of alkyl site and/or ring, sometimes with formation of reactive intermediates, and conjugation with glutathione, glucuronic acid, or glycine) (ATSDR 1999). (cdc.gov)
Serine Acetyltransferase1
- Expression Profile of the Serine Acetyltransferase (SERAT) and O-Acetylserine (thiol)lyase (OASTL) Gene Families in Arabidopsis. (mpg.de)
Lysine2
- This protein contains the apparently unique amino acid hypusine that is formed by the post-translational modification of a lysine residue catalyzed by deoxyhypusine synthase and deoxyhypusine hydroxylase (DOHH). (biomedcentral.com)
- 2) The contents of threonine, valerine, leucine, lysine, histidine, essential amino acids, flavor amino acids, aspartic acid, serine, glutamic acid and arginine of the longissimus dorsi muscle in RL2 and RL3 groups were significantly higher than RL1 and RL4 (p (bvsalud.org)
Putative3
- GNAT family putative N-acetyltransferase [Ensembl]. (ntu.edu.sg)
- Acetyltransferase (GNAT) family, Putative thioesterase (yiiD_Cterm) [Interproscan]. (ntu.edu.sg)
- putative acetyltransferase [Ensembl]. (ntu.edu.sg)
Isoleucine1
- Specifically, it helps process isoleucine, an amino acid that is a building block of many proteins. (medlineplus.gov)
Gene2
- Its biosynthetic gene cluster contains a gene coding for the N -acetyltransferase PamZ. (nature.com)
- Cloned mouse N-acetyltransferases: enzymatic properties of expressed Nat-1 and Nat-2 gene products. (cdc.gov)
Inhibitor3
- CPI-1612 is a highly potent, orally active EP300/CBP histone acetyltransferase (HAT) inhibitor with an IC 50 of 8.1 nM for EP300 HAT . (medchemexpress.com)
- CPTH2 hydrochloride is a potent histone acetyltransferase (HAT) inhibitor. (medchemexpress.com)
- CPTH2 is a potent histone acetyltransferase (HAT) inhibitor. (medchemexpress.com)
Inhibition2
- CPTH2 hydrochloride induces apoptosis and decreases the invasiveness of a clear cell renal carcinoma (ccRCC) cell line through the inhibition of acetyltransferase p300 (KAT3B) . (medchemexpress.com)
- 1997. Inhibition of L-aromatic amino acid decarboxylase by polychlorinated biphenyls. (cdc.gov)
Protein3
- Human protein N-terminal acetyltransferase hNaa50p (hNAT5/hSAN) follows ordered sequential catalytic mechanism: combined kinetic and NMR study. (umassmed.edu)
- N(alpha)-acetylation is a common protein modification catalyzed by different N-terminal acetyltransferases (NATs). (umassmed.edu)
- eIF5A is the only protein known to contain the amino acid hypusine. (biomedcentral.com)
Arylamines1
- Mice have a similar genetic polymorphism in N-acetyltransferase activity and have been used as models of the human polymorphism in many studies of the toxicology and carcinogenicity of arylamines. (cdc.gov)
Genes2
- Recently, two N-acetyltransferase genes, Nat-1 and Nat-2, were cloned from rapid (C57BL/6J) and slow (A/J) acetylator mouse strains. (cdc.gov)
- In this report, the N-acetylation polymorphism in mice was investigated by transiently expressing the cloned N-acetyltransferase genes in COS-1 cells. (cdc.gov)
Enzymes1
- Kinetic constants determined for the expressed enzymes with 2-aminofluorene and p-aminobenzoic acid indicated that Km values were not significantly different between the enzymes, although the Vmax value of NAT-2(99asn) was consistently 2-3-fold higher than that of NAT-1 or NAT-2(99ile). (cdc.gov)
Acetylation2
- Using tandem mass spectrometry, nuclear magnetic resonance spectroscopy and synthetic diastereomers, we identified the N-terminal amino group of the agmatinamic acid as the N -acetylation site. (nature.com)
- N -acetylation fol owed by N -hydroxyl- lysed hydrolysis to release the was a C8-substituted deoxyguano- ation of the remaining amino function N -hydroxyarylamines, which can sine adduct. (who.int)
Renal1
- N-acetyltransferase 8, a positional candidate for blood pressure and renal regulation: resequencing, association and in silico study. (cdc.gov)
Transformation1
- Further, the expression of phosphinothricin N-acetyltransferase also allowed for selection of modified plants during transformation. (cbd.int)
Organic1
- As a result, chemical byproducts called organic acids can build up to toxic levels in the blood. (medlineplus.gov)
Induction1
- 1989. Cellular alterations and enhanced induction of cleft palate after coadministration of retinoic acid and TCDD. (cdc.gov)
Slow2
- Humans have genetically determined differences in their N-acetyltransferase activities and are phenotypically classified as rapid or slow acetylators. (cdc.gov)
- The genomic clone encoding NAT-1 is identical in rapid and slow acetylator mouse strains, whereas the clone encoding NAT-2 differs between rapid and slow strains by a single base pair, which changes the encoded amino acid from Asn99 in the rapid acetylator strain to Ile99 in the slow acetylator strain. (cdc.gov)
NATs2
- Arylamine N-acetyltransferases (NATs) play an important role in the metabolism of arylamine and hydrazine drugs and many arylamine procarcinogens. (nih.gov)
- Human arylamine N -acetyltransferases (NATs) are xenobiotic-metabolizing enzymes that play a key role in the biotransformation of AA carcinogens. (nih.gov)
Enzyme3
- In addition, four polymorphisms result in amino acid changes that do not affect activity of the enzyme. (nih.gov)
- Treatment of bile acid synthesis disorders due to single enzyme defects (SEDs). (nih.gov)
- A third portion is acetylated to N-acetyl- serotonin by the enzyme serotonin N- acetyltransferase (14). (nih.gov)
Serotonin2
- Large changes in the activity of serotonin N-acetyltransferase (arylalkylamine N-acetyltransferase, AANAT) in the pineal gland control the rhythmic production of the time-keeping hormone melatonin. (nih.gov)
- The_ latter amino acid is then decarboxylated by l-aromatic amino acid decarboxylase to form the biogenic amine serotonin. (nih.gov)
Arylamine1
- Computational and experimental analyses of mammalian arylamine N-acetyltransferase structure and function. (nih.gov)
Bile acid synthesis disorders1
- The safety and effectiveness of CHOLBAM on extrahepatic manifestations of bile acid synthesis disorders due to SEDs or PDs including Zellweger spectrum disorders have not been established. (nih.gov)
Substrate1
- isoniazid was a preferred substrate for NAT-1, whereas p-aminobenzoic acid was preferred for NAT-2(99asn) and NAT-2(99ile). (cdc.gov)
Proteins2
- Specifically, it helps process isoleucine, an amino acid that is a building block of many proteins. (medlineplus.gov)
- Proteins that may have acetyltransferase activity, but lack experimental evidence for intrinsic activity are listed as putative lysine acetyltransferases. (nih.gov)
Tissues2
Activity2
- Mice have a similar genetic polymorphism in N-acetyltransferase activity and have been used as models of the human polymorphism in many studies of the toxicology and carcinogenicity of arylamines. (cdc.gov)
- Shows only trace activity toward L-His and no N-acetyltransferase activity toward other amino acids. (nih.gov)
Mice1
- 7. Transgenic mice with activated polyamine catabolism due to overexpression of spermidine/spermine N1-acetyltransferase show enhanced sensitivity to the polyamine analog, N1, N11-diethylnorspermine. (nih.gov)
Drugs1
- 3. Combination effects of platinum drugs and N1, N11 diethylnorspermine on spermidine/spermine N1-acetyltransferase, polyamines and growth inhibition in A2780 human ovarian carcinoma cells and their oxaliplatin and cisplatin-resistant variants. (nih.gov)
Activities2
Role1
- 10. The role of spermidine/spermine N1-acetyltransferase in determining response to chemotherapeutic agents in colorectal cancer cells. (nih.gov)
Result1
- As a result, chemical byproducts called organic acids can build up to toxic levels in the blood. (medlineplus.gov)
Level1
- 2. Polyamine catabolism in platinum drug action: Interactions between oxaliplatin and the polyamine analogue N1,N11-diethylnorspermine at the level of spermidine/spermine N1-acetyltransferase. (nih.gov)