• Common variations (polymorphisms) in the CAT gene and in regions of DNA that regulate the gene's activity may be associated with the risk of developing certain common, complex diseases. (medlineplus.gov)
  • For example, researchers are studying these polymorphisms as potential risk factors for type 2 diabetes and other disorders of blood glucose regulation. (medlineplus.gov)
  • CAT gene polymorphisms may also be associated with high blood pressure ( hypertension ), a skin condition called vitiligo , thinning of the bones (osteoporosis), and elevated levels of cholesterol and other fats (lipids) in the blood, which increase the risk of heart attack and stroke. (medlineplus.gov)
  • However, it is unclear how polymorphisms in the CAT gene impact catalase activity, and how changes in the activity of this enzyme might influence a person's risk of developing these diseases. (medlineplus.gov)
  • Polymorphisms are usually defined as a sequence variant in a gene that occurs in more than 1% of alleles. (health.am)
  • Polymorphisms in genes that code for enzymes, receptors, or other proteins that act in metabolic pathways of potential relevance to breast cancer may influence the function of these proteins and thus create between-person differences in metabolic activity that may alter risk of breast cancer. (health.am)
  • If these polymorphisms cause only modest increases in risk, or confer risk only in conjunction with exposure to carcinogens, they would not cause noticeable familial aggregation. (health.am)
  • Because these polymorphisms may be very common (the homozygous deletion in the glutathione-S-transferase mu gene occurs in approximately 50% of whites), their population-attributable risks may be large even if the relative risks are modest. (health.am)
  • The report covers research from the authors' laboratories on the structure and regulation of UDP-glucuronosyltransferase (UGT) genes, glucuronidation of xenobiotics and endobiotics, the toxicological relevance of UGTs, the role of UGT polymorphisms in cancer susceptibility, and gene therapy for UGT deficiencies. (aspetjournals.org)
  • Metabolic gene polymorphisms might modify the effect of toxins on the outcome of pregnancy and development afterwards. (biomedcentral.com)
  • Two common variations (polymorphisms) have also been found in the ACADS gene. (digestivetracthealth.com)
  • The most common approach to finding such variants involved testing whether polymorphisms in candidate genes were associated with disease risk in a small group of unrelated patients with the same phenotype (e.g., diabetes, obesity). (basicmedicalkey.com)
  • The in vitro method developed in this study remains in the research team as a tool to investigate the polymorphisms of the SLCO1B1-gene, the inhibition of the transporter and possible drug interactions. (helsinki.fi)
  • Recent advances have been made in the of host factors, polymorphisms, and candidate genes associated characterization of the immune response to low-molecular- with occupational asthma may improve our understanding of weight agents. (cdc.gov)
  • If hydrogen peroxide is not broken down by catalase, additional reactions convert it into compounds called reactive oxygen species that can damage DNA, proteins, and cell membranes. (medlineplus.gov)
  • The UGT1 family constitutes a complex gene locus on human chromosome 2q37 and comprises 13 first exons that encode the unique N-terminal domains of the UGT1A proteins and exons 2 to 5 that encode the C-terminal domain, which is identical in all UGT1A family members ( Owens and Ritter, 1992 ). (aspetjournals.org)
  • Bioinformatics strategies were used to find other homologous genes and proteins, which can also degrade HCH present in various bacteria for controlling of pollution and offer clue to prevent its entry in the food chain. (ispub.com)
  • Instead, it involves modifications to the structure of DNA and associated proteins, which can silence or activate genes. (alliedacademies.org)
  • Chemical modifications to histones, such as acetylation and methylation, can alter the accessibility of DNA to transcription factors and other regulatory proteins. (alliedacademies.org)
  • These products are often proteins, but in non-protein coding genes such as ribosomal RNA , transfer RNA or small nuclear RNA genes, the product is a functional RNA. (absoluteastronomy.com)
  • Living beings depend on genes, as they specify all proteins and functional RNA chains. (absoluteastronomy.com)
  • Consumption of disulfiram inhibits acetaldehyde dehydrogenase, the enzyme responsible for the metabolism of acetaldehyde, thereby causing it to build up in the body. (wikipedia.org)
  • Variegate porphyria (VP) is an inherited disorder of porphyrin-heme metabolism arising from mutations of the gene encoding the enzyme protoporphyrinogen oxidase. (medscape.com)
  • The differentiation of preadipocytes into mature adipocytes involves a series of epigenetic changes that control the expression of genes responsible for fat storage and metabolism. (alliedacademies.org)
  • Studies have shown that changes in DNA methylation patterns can affect the expression of genes involved in adipocyte differentiation and lipid metabolism. (alliedacademies.org)
  • The present study aimed to replicate these findings in an independent study population, and test the hypothesis that variation in genes related to TCE metabolism or genes related to PD risk might modify the risk from TCE. (cdc.gov)
  • In their study, which appeared in the journal Nutrition Research , they tested CSO to evaluate its effect on enzymes involved in the metabolism of fat in the liver. (naturalnews.com)
  • PPAR-delta is a transcription factor involved in the regulation of genes related to fatty acid oxidation (metabolism), cholesterol metabolism, and thermogenesis (heat production). (naturalnews.com)
  • Defective regulation of iron homeostasis genes lead to either, iron excess and related tissue injuries due to iron-stimulated oxidative damage or iron deficiency disorders. (jnu.ac.in)
  • Goth L, Nagy T. Inherited catalase deficiency: is it benign or a factor in various age related disorders? (medlineplus.gov)
  • Some cases of partial enzyme deficiency respond to the administration of excess biotin. (medscape.com)
  • It occurs because of a deficiency of the short-chain acyl-CoA dehydrogenase (SCAD) enzyme. (digestivetracthealth.com)
  • SCADD is an autosomal recessive condition caused by mutations in the Short Chain Acyl-Coenzyme A dehydrogenase (ACADS) gene leading to deficiency of the SCAD enzyme. (digestivetracthealth.com)
  • It has been suggested that SCAD deficiency may be a risk factor that can make other neuromuscular disorders worse, but this remains unproven. (digestivetracthealth.com)
  • The prevalence of vitamin D deficiency varies, with the groups at greatest risk including housebound, community-dwelling older and/or disabled people, those in residential care, dark-skinned people (particularly those modestly dressed), and other people who regularly avoid sun exposure or work indoors. (vitamindwiki.com)
  • Impact of genetic structural variants in factor XI deficiency: identification, accurate characterization, and inferred mechanism by long-read sequencing. (nih.gov)
  • Phenotype and genotype analysis of patients with severe factor XI deficiency in Shaanxi Province, China. (nih.gov)
  • A family with hereditary FⅪ deficiency caused by compound heterozygous mutation]. (nih.gov)
  • enzyme deficiency or inactivity leads to Accumulation. (msdmanuals.com)
  • Acetaldehyde (IUPAC systematic name ethanal) is an organic chemical compound with the formula CH3CHO, sometimes abbreviated as MeCHO. (wikipedia.org)
  • Trace organic compounds in landfill gas at seven U.K. waste disposal sites. (cdc.gov)
  • There is probably no single one chemical exposure responsible for these illnesses, but more likely a mixed exposure of chemical classes such as particulate matter and oxygenated organic species (oxidized volatile organic compounds that are likely biologically reactive and potentially cause cell damage and increase susceptibility to disease). (cdc.gov)
  • The possible answers to these questions might be found in investigating the chemistry of volatile organic compounds found in the indoor environment, developing new sampling methods, and improving assessments of chemical health effects. (cdc.gov)
  • Some of these are volatile organic compounds, meaning they evaporate into the air, and others are non-volatile, meaning they adhere to the surface. (cdc.gov)
  • NIOSH research has shown that when combined with ozone, one of the common components of pine oil cleaners, alpha-terpineol, transforms into many oxygenated organic compounds in both the gas-phase and on surface reactions creating new products potentially harmful to those exposed. (cdc.gov)
  • A wide range of halogenated organic compounds were used as solvents, agricultural chemicals, and insulating liquids. (ispub.com)
  • Autoxidation leads to degradation of organic compounds, including living matter. (wikipedia.org)
  • Very lipophilic drugs enter the cell membrane through passive diffusion, but polar or ionized organic compounds can enter the cell membrane only by transporters. (helsinki.fi)
  • IARC scientists coordinated several studies on the adverse health effect of exposure to styrene, man-made vitreous fibres, organic mercury compounds and substances affecting workers in the paper, wood, leather and asphalt industry and in biological research laboratories. (who.int)
  • This reaction results in the production of acetaldehyde, a carcinogenic compound, which is enzymatically reduced to acetate by aldehyde dehydrogenase (ALDH) [ 12 ]. (springer.com)
  • however, only 5% to 10% of breast cancers are estimated to be attributable to the inheritance of rare, highly penetrant, germ-line mutations in genes, although this proportion is higher at younger ages of diagnosis. (health.am)
  • Biswas S., Gupta M.K., Chattopadhyay D., and Mukhopadhyay C.K., Insulin induced activation of hypoxia inducible factor-1 requires generation of reactive oxygen species by NADPH oxidase. (jnu.ac.in)
  • Variegate porphyria arises from autosomal dominant inheritance of a gene mutation encoding a defective protoporphyrinogen oxidase enzyme. (medscape.com)
  • To date, there have been 184 different mutations in the protoporphyrinogen oxidase gene that results in variegate porphyria. (medscape.com)
  • Inheritance of two mutant protoporphyrin oxidase genes causes a more profound reduction in residual enzyme activity to 25% or less, leading to more severe disease manifestations. (medscape.com)
  • Prevalence is estimated at 1 case in 300 persons in South Africa, where a protoporphyrinogen oxidase gene "founder" mutation traceable to Dutch immigrants who married there in 1680 has been widely disseminated. (medscape.com)
  • This relatively high prevalence compared with Europe suggests a possible protoporphyrinogen oxidase gene mutation passed down through Jewish ancestry. (medscape.com)
  • Very rare childhood cases have been ascribed to the presence of 2 mutant protoporphyrinogen oxidase genes in the same individual. (medscape.com)
  • However, with early diagnosis of active disease, identification of asymptomatic protoporphyrinogen oxidase gene mutation carriers, and avoidance of drugs and other factors known to induce or worsen clinical expression, symptomatology among those at risk can be minimized. (medscape.com)
  • The HGD gene controls the instruction for making the homogentisate Oxidase enzyme. (hxbenefit.com)
  • Most exogenous carcinogens are metabolized by enzymes, which may change them to more DNA-damaging forms ordetoxify them, often by attaching glutathione or other groups that promote excretion of the modified compounds. (health.am)
  • Within the liver endogenous and exogenous compounds are eliminated through many metabolizing enzymes. (helsinki.fi)
  • Nuclear Receptors (NRs), that include steroid hormone receptors, are intra-cellular transcription factors that regulate gene expression in response to their cognate ligands. (jnu.ac.in)
  • The vitamin D receptor (VDR) is part of the superfamily of nuclear receptors that regulate several genes containing a vitamin D-responsive gene promoter element. (hindawi.com)
  • Studies on the mechanisms that regulate UGT genes, in a temporal and tissue-specific manner, should contribute significantly to understanding the basis for these differences. (aspetjournals.org)
  • For information on therapeutic regulation of gene expression, see therapeutic gene modulation.Regulation of gene expression includes the processes that cells and viruses use to regulate the way that the information in genes is turned into gene products. (absoluteastronomy.com)
  • This involves the inability of the endothelium to regulate blood clotting, blood pressure, and various other factors. (nhchirowellness.com)
  • Because this enzyme occurs at the very end of the fatty acid oxidation pathway, the compounds that accumulate can be utilized by other enzymes, preventing clinical symptoms from occurring. (digestivetracthealth.com)
  • These mutations both disrupt the functioning of enzymes involved in alcohol detoxification, causing the toxic compound acetaldehyde, a Group I carcinogen, to accumulate in the blood. (ox.ac.uk)
  • As to myeloperoxidase, oxidants derived from the activity of this enzyme such as hypochlorous acid may critically interfere with several cell functions thereby engendering tissue and organ damage. (hindawi.com)
  • A related condition called hypocatalasemia occurs when only one of the two copies of the CAT gene in each cell has a mutation. (medlineplus.gov)
  • While working in a pediatric lysosomal biochemistry lab, Dr Pasternak came across a study showing that a glucocerebrosidase gene mutation was a risk factor for Parkinson's disease. (vjneurology.com)
  • [ 11 ] Individuals with one such mutation have total enzyme activity diminished to as much as 50% of normal. (medscape.com)
  • Most individuals with one mutation remain asymptomatic, but they are at risk if exposed to environmental factors (most often drugs) that can induce overt phenotypical expression. (medscape.com)
  • The founder gene mutation common among South Africans encodes an enzyme with little or no residual activity that may be lethal in homozygotes. (medscape.com)
  • Four South African children manifesting variegate porphyria were compound heterozygotes with the founder mutation on one allele, but a different mutation apparently encoding an enzyme with enough residual activity to enable survival, on the other. (medscape.com)
  • The mutation causes defects in the homogentisate 1,2-dioxygenase enzyme which hampers the breakdown of tyrosine. (hxbenefit.com)
  • In the hypothalamus, histone modifications have been linked to the regulation of genes involved in appetite control and energy homeostasis. (alliedacademies.org)
  • Acatalasemia also appears to increase the risk of developing type 2 diabetes (the most common form of diabetes) and is a potential risk factor for other common, complex diseases. (medlineplus.gov)
  • Goth L, Rass P, Pay A. Catalase enzyme mutations and their association with diseases. (medlineplus.gov)
  • Interindividual UGT variability likely plays an important role in drug efficacy and xenobiotic toxicity, as well as in hormonal regulation and certain diseases, which in some cases may be amenable to therapeutic manipulations including gene therapy. (aspetjournals.org)
  • Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. (digestivetracthealth.com)
  • Hyperlipidemia, characterized by the abnormal blood lipid profiles, is one of the dominant factors of many chronic diseases such as diabetes, obesity, and cardiovascular diseases (CVD). (hindawi.com)
  • The enzyme HDAC10 is involved in a variety of cellular processes associated with the development of a number of diseases. (dkfz.de)
  • HDAC enzymes play a role in the development of many diseases, including numerous cancers. (dkfz.de)
  • Strong antioxidant: since Vitamin C is a strong antioxidant, it may help in reducing the risk of chronic diseases. (itsgettinghotinhere.org)
  • Curcumin is linked to improved brain functions and a lower risk of brain diseases. (nhchirowellness.com)
  • Berry good news: newly discovered compound from blueberries could treat inflammatory disorders - Science Daily, 9/23/20 - 'In their latest study, published in The FASEB Journal, the scientists identified a polyphenolic compound called 'pterostilbene' (PSB) with strong immunosuppressive properties -- making it a potential therapeutic option for chronic inflammatory diseases, including inflammatory bowel disease (IBD). (qualitycounts.com)
  • Accordingly, a health-care provider can predict a person's risk for common diseases, select diagnostic tests to confirm the presence of disease, and prescribe the best therapeutic regimen to treat it. (basicmedicalkey.com)
  • Traditionally the search for genetic variants that influence risk for Mendelian conditions and common complex diseases has been a daunting task and has been one of the major obstacles to developing precision medicine. (basicmedicalkey.com)
  • Leonard Hayflick, who demonstrated the finitude of repeated cell divisions so elegantly in the 1960s (see Foundations ) offers perhaps the most fantastic if most unattainable fix: Perfect or near perfect synthesis, maintenance, and repair of every biomolecule in the human body, he says, would make the risk for most age-related diseases and disorders simply vanish. (the-scientist.com)
  • The excessive homogentisic acid and other similar compounds accumulate in the connective tissues, leading to darkening of the cartilage and skin. (hxbenefit.com)
  • Two randomised controlled cross-over intervention studies investigating the effects of chronic and acute consumption of commercially-available fruit- and vegetable-puree-based drinks (FVPD) on bioavailability, antioxidant status and CVD risk factors are described. (cambridge.org)
  • There were no significant effects on oxidative stress, antioxidant status and other CVD risk factors. (cambridge.org)
  • OBJECTIVE- Sulforaphane is an activator of transcription factor NF-E2-related factor-2 (nrf2) that regulates gene expression through the promoter antioxidant response element (ARE). (diabetesjournals.org)
  • Curcumin also boosts the activity of the body's own antioxidant enzymes. (nhchirowellness.com)
  • Known dietary antioxidants are vitamins A , C , and E , but the term antioxidant has also been applied to numerous other dietary compounds that only have antioxidant properties in vitro , with little evidence for antioxidant properties in vivo . (wikipedia.org)
  • The purpose of this study was to investigate the association of occupational exposures to the solvents trichloroethylene (TCE) and tetrachloroethylene (perchloroethylene, PERC) and risk of Parkinson's disease (PD). (cdc.gov)
  • This was problematic, in part because choosing the most appropriate candidate genes was difficult, small cohorts provided limited statistical power, and the process of genotyping or sequencing was labor intensive and expensive. (basicmedicalkey.com)
  • Cigarette smoking is a route of exposure to aryl aromatic amine carcinogens that can be activated by the cytochrome P450 1A2 (CYP1A2) and NAT1 and NAT2 (N-acetyltransferase 1 and 2) genes. (health.am)
  • Harmful exposure to these environmental risks could begin in the mother's womb and affect fetal development. (biomedcentral.com)
  • Therefore, SHS exposure should be considered a modifiable risk factor for delayed neurodevelopment and cognitive impairment in children. (biomedcentral.com)
  • Given that these new oxygenated species are not detected by conventional sampling methods, new techniques are needed to assess worker exposure and the potential health risk. (cdc.gov)
  • We also calculated a cumulative exposure estimate for each compound. (cdc.gov)
  • PD risk associated with "high" cumulative exposure to TCE was slightly but non-significantly elevated: odds ratio 1.8 (95%CI 0.5-5.2). (cdc.gov)
  • Our ability to assess exposure risk in persons with specific genetic variants was limited due to small numbers. (cdc.gov)
  • We found a significant interaction between occupational use of CCl4 and the metabolic enzyme GSTM1 among men: persons with active glutathione-S-transferase-M1 enzyme were at higher risk from TCE exposure (p=0.037) than persons with inactive enzyme. (cdc.gov)
  • No other significant interactions were found, but risk associated with TCE exposure was somewhat higher in persons with function glutathione-S-transferase-M1 enzyme. (cdc.gov)
  • Additionally, though not statistically significant, risk associated with TCE exposure was higher in smokers and in persons who sustained a prior head injury. (cdc.gov)
  • Overall, this work adds to current data suggesting that occupational exposure to TCE is a risk factor for PD. (cdc.gov)
  • Exposure to oxygen and sunlight are the two main factors in the oxidation of food, so food is preserved by keeping in the dark and sealing it in containers or even coating it in wax, as with cucumbers. (wikipedia.org)
  • Estimates of exposure levels posing minimal risk to humans (MRLs) have been made, where data were believed reliable, for the most sensitive noncancer effect for each exposure duration. (cdc.gov)
  • Most studies of occupational exposure to methyl mercaptan in the pulp industry also involve exposure to other sulfur-containing compounds such as hydrogen sulfide, dimethyl sulfide, and sulfur dioxide as well as to methyl mercaptan (Kangas et al. (cdc.gov)
  • Like compounds from biological sources and low-molecular-weight nonoccupational asthma, occupational asthma is probably the chemicals cause occupational asthma after a latent period of result of multiple genetic, environmental, and behavioral exposure. (cdc.gov)
  • Environmental factors that can detect specific IgE antibodies against most low-molecular- affect the initiation of occupational asthma include the intrinsic weight agents has resulted in a search for alternative or characteristics of causative agents as well as the influence of the complementary physiopathologic mechanisms leading to airway level and route of exposure at the workplace. (cdc.gov)
  • the risk of astrocytic brain cancer increased with increasing probability of exposure, duration of exposure and average intensity, but not cumulative exposure to DCM. (who.int)
  • Many of the genes that encode these enzymes display phenotypic variation (individuals differ in the activity of the enzymes), and for many of these enzymes, the alterations in DNA sequence that are responsible for the phenotypic variation are known. (health.am)
  • Mainly, two genes linA and linB encode dehydrochlorinase and dehalogenase enzymes involved in degradation of HCH. (ispub.com)
  • Hypermethylation of specific CpG sites in the promoter regions of genes can silence their expression, while hypomethylation can activate gene transcription. (alliedacademies.org)
  • For instance, hypermethylation of the promoter region of the Peroxisome Proliferator-Activated Receptor Gamma (PPARγ) gene, a master regulator of adipogenesis, can suppress its expression, impairing fat cell formation. (alliedacademies.org)
  • Recent studies have shown that transporters can mediate drug-drug interactions, and transporter genes are subject to genetic polymorphism which may affect pharmacokinetic parameters of a drug, such as absorption, distribution, and excretion. (helsinki.fi)
  • Depending on the specific enzyme affected, porphyria may manifest clinically in an acute or non-acute manner, and the signs and symptoms may be predominantly neurovisceral, psychiatric, cutaneous, or some combination of those. (medscape.com)
  • QYLURQPHQWDO FDUFLQRJHQV The IARC 0RQRJUDSKV on the evaluation of carcinogenic risks to humans published in 1997 conclude that PCDD ("dioxin") and crystalline silica inhaled in the form of quartz or cristobalite from occupational sources are carcinogenic to humans. (who.int)
  • This situation has been accentuated by the existence of two very common variants in the SCAD gene that lead to blood and urine findings suggestive of SCADD but are not sufficiently severe to cause complete SCADD. (digestivetracthealth.com)
  • To address these unknowns, researchers at the Medical Research Council Population Health Research Unit (MRC PHRU) at the University of Oxford supported a study that used a genetic approach by investigating gene variants linked to lower alcohol consumption in Asian populations. (ox.ac.uk)
  • In addition, these new technologies for genotyping and DNA sequencing have made it possible to develop cost-effective clinical tests that take advantage of newly discovered risk variants. (basicmedicalkey.com)
  • The major challenge nowadays to implementing precision medicine is translating discoveries of risk variants and their roles in biological pathways into clinical practice. (basicmedicalkey.com)
  • Four identical subunits, each attached (bound) to an iron-containing molecule called a heme group, form the functional enzyme. (medlineplus.gov)
  • Porphyria is the common term for a group of syndromes, largely hereditary, that result from defects in porphyrins (the enzymes involved in heme synthesis). (medscape.com)
  • PC is a biotin-dependent mitochondrial enzyme that plays an important role in energy production and anaplerotic pathways. (medscape.com)
  • mutations in the gene for the tumor protein p53 (causing Li-Fraumeni syndrome) and in PTEN (causing Cowden disease) account for a small proportion of inherited breast cancers. (health.am)
  • Studies on rodent UGT genes have demonstrated that the transcription factors hepatocyte nuclear factor 1 (HNF1) and CAAT-enhancer binding protein are important positive regulators of UGT expression in the liver (Hansen et al. (aspetjournals.org)
  • Now, a new study in the European Respiratory Journal has found that there are increased levels of an enzyme called Receptor-interacting protein kinase 1 (RIPK1) in the lungs of people suffering from COPD. (cosmosmagazine.com)
  • This enzyme plays an important role in breaking down the important protein building blocks tyrosine and the amino acids phenylalanine. (hxbenefit.com)
  • This protein is present in plasma as a zymogen, which is a unique plasma coagulation enzyme because it exists as a homodimer consisting of two identical polypeptide chains linked by disulfide bonds. (nih.gov)
  • The unknown functions of a known protein: the case of coagulation factor XI. (nih.gov)
  • The team found that inhibiting RIPK1 activity in mice, through both knocking out the gene that produces it or introducing a compound (GSK'547) that inhibits the enzyme, had a significant protective effect against the disease. (cosmosmagazine.com)
  • Glutathione S-transferases mu 1 (GSTM1) and theta 1 (GSTT1) are major detoxification phase II enzymes that provide critical defense against xenobiotics. (biomedcentral.com)
  • RESULTS- Activation of nrf2 by sulforaphane induced nuclear translocation of nrf2 and increased ARE-linked gene expression, for example, three- to fivefold increased expression of transketolase and glutathione reductase. (diabetesjournals.org)
  • The Nuclear Receptor family is a large group of ligand-activated transcription factors with 48 members presently identified in the human genome. (jnu.ac.in)
  • These microbes (10 14 ) outnumber human cells 10 to one and account for 3 × 10 6 genes, more than 10 times the 25,000 genes comprising the human genome. (frontiersin.org)
  • This microbial metagenome acts as an "extended human genome," and, like our own genes, is highly specific to the individual. (frontiersin.org)
  • Men carrying one or two of the low-alcohol tolerability alleles for ADH1B had between 13-25% lower risks of overall cancer and alcohol-related cancers, particularly head and neck cancer, and oesophageal cancer. (ox.ac.uk)
  • The CAT gene provides instructions for making pieces (subunits) of an enzyme called catalase. (medlineplus.gov)
  • At least 13 mutations in the CAT gene have been found to cause acatalasemia, a condition characterized by very low catalase activity. (medlineplus.gov)
  • The mutations that cause acatalasemia occur in both copies of the CAT gene in each cell, and they reduce the activity of catalase to less than 10 percent of normal. (medlineplus.gov)
  • Hereditary catalase deficiencies and increased risk of diabetes. (medlineplus.gov)
  • Risk factors for depression initiate an infection-like inflammation in the brain that involves activation microglial Toll-like receptors and glycogen synthase kinase-3β (GSK3β). (mdpi.com)
  • Candidates include genes for carcinogen-metabolizing enzymes, steroid hormone-metabolizing enzymes, and receptors such as the estrogen and progesterone receptors. (health.am)
  • It is also produced by the partial oxidation of ethanol by the liver enzyme alcohol dehydrogenase and is a contributing cause of hangover after alcohol consumption. (wikipedia.org)
  • Curcumin also reduces inflammation and oxidation which is also important in reducing the risk of a heart attack. (nhchirowellness.com)
  • Antioxidants are compounds that inhibit oxidation (usually occurring as autoxidation ), a chemical reaction that can produce free radicals . (wikipedia.org)
  • The clinical, biochemical and genetic features of the conditions known as estrogen-dependent inherited angioedema, estrogen-associated angioedema, hereditary angioedema with normal C-1 inhibitor, type III angioedema, or factor XII angioedema are reviewed. (biomedcentral.com)
  • Mutations in the HGD gene are the principal cause of this hereditary disease. (hxbenefit.com)
  • Men who drank regularly despite carrying one copy of the low-alcohol tolerability allele for ALDH2 had significantly higher risks of head and neck cancer and oesophageal cancer. (ox.ac.uk)
  • For non-drinkers or occasional drinkers, there was no overall association between carrying one copy of the low-alcohol tolerability allele for ALDH2 and increased cancer risk. (ox.ac.uk)
  • However, fruit juices contain beneficial compounds such as vitamin C and flavonoids and could be a useful source of dietary phytochemicals. (cambridge.org)
  • Vitamin C can help greatly to reduce these risk factors, potentially reducing the risk for heart disease. (itsgettinghotinhere.org)
  • Even though there are many benefits of taking Vitamin C supplements, it is very easy to overdose and exceed the daily maximum for the compound. (itsgettinghotinhere.org)
  • In order words, adults can take up to 2,000 mg of Vitamin C without risking their health. (itsgettinghotinhere.org)
  • This compound promotes absorption of calcium and phosphate from the gut, contributes to extracellular calcium and phosphate homeostasis directly and through an interaction with parathyroid hormone (PTH), facilitates mineralisation of the skeleton, and is important for muscle function.4 In addition, almost every nucleated cell expresses the vitamin D receptor, and many extrarenal tissues have the capacity to make 1,25-(OH)2D. (vitamindwiki.com)
  • Sulfonated non-saccharide molecules and human factor XIa: Enzyme inhibition and computational studies. (nih.gov)
  • Gene expression is the process by which information from a gene is used in the synthesis of a functional gene product. (absoluteastronomy.com)
  • Histone deacetylases (HDAC) are a family of 18 enzymes that largely interfere with the epigenetics of cells and influence which genes are transcribed. (dkfz.de)
  • Epigenetic mechanisms include DNA methylation, histone modifications, and non-coding RNA molecules, all of which contribute to the regulation of gene expression. (alliedacademies.org)
  • For example, histone acetylation of genes encoding neuropeptides like leptin and ghrelin, which play critical roles in appetite regulation, can affect their expression. (alliedacademies.org)
  • Altered histone acetylation patterns in response to dietary changes or environmental factors can disrupt the balance between appetite-stimulating and appetite-suppressing signals, potentially contributing to overeating and obesity[ 2 ]. (alliedacademies.org)
  • 1995. Development of physiologically based pharmacokinetic and physiologically based pharmacodynamic models for applications in toxicology and risk assessment. (cdc.gov)
  • With alcohol consumption rising, particularly in rapidly developing countries such as China, there is an urgent need to understand how alcohol affects disease risks in different populations. (ox.ac.uk)
  • But it has been difficult to establish whether alcohol directly causes cancer, or if it is linked to possible confounding factors (such as smoking and diet) that could generate biased results. (ox.ac.uk)
  • Because these alleles are allocated at birth and are independent of other lifestyle factors (such as smoking), they can be used as a proxy for alcohol intake, to assess how alcohol consumption affects disease risks. (ox.ac.uk)
  • In addition, analysis on culture dependent and culture independent bacteria were done, which might play a vital role in the degradation of the non-degradable compounds. (ispub.com)
  • HDAC10 removes acetyl groups from so-called polyamines, a class of biological compounds that perform a variety of tasks in the cell. (dkfz.de)
  • Google Scholar10Hickey GL, Philipson pdf erzählungen 1975, Jorgensen A, Kolamunnage-Dona R. A model of semiparametric users for biological and available disciplines systems, with gene to an release assumption was parental research. (fellowshipbaptistsb.org)
  • As this research expands scientists' understanding of the gland as a factor controlling the body's daily rhythms, it may also help shed light on human conditions related to circadian rhythms, such as hormonal changes, sleep and mood disorders, and problems with alertness. (nih.gov)
  • Infection is a risk with any parenteral injection because of the risk of bacteria being introduced into the tissue (2, 4-6), which in turn can lead to abscesses and infections in the skin or soft tissue. (pharmtech.com)
  • biodegradable enzymes present in the genes of some bacteria degrade HCH in soil. (ispub.com)
  • Without anti-inflammatory compounds like curcumin, pathogens such as bacteria could easily take over an individual's body. (nhchirowellness.com)
  • A shortage of this enzyme can allow hydrogen peroxide to build up to toxic levels in certain cells. (medlineplus.gov)
  • The compound, called DKFZ-748, is hardly toxic to cells and therefore well suited to study the function of HDAC10 as well as that of its substrates, the polyamines. (dkfz.de)
  • Hexachlorocyclohexane (HCH) is a non-degradable compound extensively used against agricultural pests and various public health programs for controlling mosquitoes. (ispub.com)
  • The tumor suppressor TP53 (also called p53) has been among the most extensively studied genes since its discovery in 1979 [ 1 , 2 ]. (nature.com)
  • While the reductionist approach of in vitro studies makes them powerful and inexpensive methods useful for learning about effects and mechanisms of actions of compounds, the reductionist approach also requires careful consideration of limitations. (nationalacademies.org)
  • BACKGROUND: Anti-tumor necrosis factor (TNF) therapy is effective for the treatment of Crohn's disease. (bvsalud.org)
  • Removing the acetyl group makes the polyamines usable by tumor cells, which rely on these compounds for growth," said Raphael Steimbach, lead author of the study, explaining a newly discovered function of HDAC10. (dkfz.de)
  • Here, we review the role of ferroptosis in p53-mediated tumor suppression, with a focus on what cellular factors are critical for p53-dependent ferroptosis during tumor suppression and how p53 modulates both the canonical (GPX4-dependent) and the non-canonical (GPX4-independent) ferroptosis pathways. (nature.com)
  • Transporters in the basolateral membrane of the hepatocyte facilitate drug entry and access to drug metabolizing enzymes. (helsinki.fi)
  • VDR-responsive genes are involved in cell proliferation and differentiation, membrane transport, cell adhesion, matrix mineralization, inflammation, and oxidative stress [ 1 ]. (hindawi.com)
  • According to co-senior author Professor Phil Hansbro, Director of the Centenary UTS Centre for Inflammation at the University of Technology Sydney, while smoking is the primary risk factor for developing COPD, the disease can also be caused by breathing in dust, fumes, chemicals, and air pollution. (cosmosmagazine.com)
  • Curcumin is helpful in blocking NF-kB, a molecule that usually travels into the nuclei and turns on the genes related to inflammation. (nhchirowellness.com)
  • Pterostilbene could alleviate diabetic cognitive impairment by suppressing TLR4/NF-кB pathway through microbiota-gut-brain axis - Phytother Res 2023 Apr 10 - 'Diabetic cognitive impairment (DCI) is a serious neurodegenerative disorder caused by diabetes, with chronic inflammation being a crucial factor in its pathogenesis. (qualitycounts.com)
  • Further investigations showed that pterostilbene reduced the level of lipopolysaccharide, modulated colon and brain TLR4/NF-κB signaling pathways, and decreased the release of inflammatory factors, which in turn inhibited intestinal inflammation and neuroinflammation. (qualitycounts.com)
  • To achieve this, p53 mainly functions as a transcription factor (TF) targeting hundreds of genes, but it also has TF-independent roles in the nucleus and cytoplasm [ 6 ]. (nature.com)
  • Mutations in each of these genes occur in fewer than 1% of the population. (health.am)
  • Recessive genetic disorders occur when an individual inherits a non-working gene from each parent. (digestivetracthealth.com)
  • The UGT2 family, in contrast, is encoded by separate genes clustered on chromosome 4q13 and consists of the UGT2A and UGT2B subfamilies. (aspetjournals.org)
  • Defects in this factor lead to Rosenthal syndrome, a blood coagulation abnormality. (nih.gov)
  • A range of in vitro experimental systems is used to gain insight into the risk of adverse effects of compounds. (nationalacademies.org)
  • The control possible with in vitro experiments enables examination of effect on the target process or structure in isolation from confounding factors. (nationalacademies.org)
  • All individuals carry a few abnormal genes. (digestivetracthealth.com)
  • Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder. (digestivetracthealth.com)
  • It follows an autosomal recessive inheritance pattern, meaning that a patient inherits one copy of the abnormal gene from each parent which causes the disorder. (hxbenefit.com)
  • These studies have provided fundamental insights into UGT gene structure and regulation, isozyme substrate selectivity, and interindividual variability. (aspetjournals.org)
  • The risk of developing cervical cancer is closely related to sexual behaviour of both the woman and her male partner. (who.int)
  • A growing number of studies have examined whether these different genotypes are associated with breast cancer risk or interact with environmental exposures (e.g., cigarette smoking). (health.am)
  • World Health Organization (WHO) has recently reported that environmental risks including SHS take lives of 1.7 million children under 5 years of age every year [ 2 ]. (biomedcentral.com)
  • Environmental factors also influence to degrade the compound which includes pH, temperature, bioactivity, nutrient supply and oxygen availability. (ispub.com)
  • This article explores the fascinating world of epigenetic regulation in the context of obesity, shedding light on how environmental factors can influence gene expression, ultimately impacting our weight and overall health. (alliedacademies.org)
  • Precision or predictive medicine is a model of practice in which each person's personal risk for rare and common conditions and the effectiveness of various treatments are estimated directly from their unique combination of genetic and environmental risk factors. (basicmedicalkey.com)
  • Precision medicine is the use of each person's unique combination of genetic and environmental risk factors to make predictions about their disease risk and response to various treatments. (basicmedicalkey.com)
  • Objectives: The objective of this study was to explore potential drug-drug/food interactions of ciprofloxacin and grapefruit juice, known hepatic cytochrome P450 (CYP) 1A2 inhibitors, on single-dose oral pharmacokinetics of riluzole, a substrate of CYP 1A2 enzymes. (researchgate.net)
  • In multivariate analysis, number of prescribed antimicrobials (odds ratio: 2.3001, 95% CI: 1.6237-3.2582), number of prescribed drugs (odds ratio: 1.2008, 95% CI: 1.0943-1.3177), and hospitalization in the university hospital (odds ratio: 1.7798, 95% CI: 1.0035-3.1564) were independent risk factors for developing drug interactions. (researchgate.net)
  • Hyperlipidemic patients should be warned about the potential risks of herb-drug interactions, particularly those taking anticoagulants and antiplatelet drugs. (hindawi.com)
  • Among these mechanisms, stimulation of the advanced glycation end product (AGE) receptor by a low-molecular weight AGEs like pentosidine or by compounds of the S100/calgranulin family like S100A12/ENRAGE is a relevant pathway leading to cardiovascular disease and renal damage in CKD patients [ 4 ]. (hindawi.com)
  • Over time, there has been a growing interest in understanding the mechanisms and risk factors associated with VAN and discovering ways to mitigate side-effects. (kireportscommunity.org)