pdf a common polymorphism of the mct1 gene and

(PDF) Meta-Analysis and Association of Two Common

Neuropeptides such as oxytocin (OXT) are known facilitators of social behavior across species. Variants of the OXT receptor gene (OXTR) have been tested for association with autism spectrum disorder (ASD) across manifold ethnicities, yielding both

(PDF) Meta-Analysis and Association of Two Common

Neuropeptides such as oxytocin (OXT) are known facilitators of social behavior across species. Variants of the OXT receptor gene (OXTR) have been tested for association with autism spectrum disorder (ASD) across manifold ethnicities, yielding both 1 MCT1 A1470T:a novel polymorphism for sprint 2 27 Abstract 28 Objectives:The A1470T polymorphism (rs1049434) inthe monocarboxylate (lactate/pyruvate) transporter 1 gene (MCT1) has been suggested to influence athletic29 performance in the general populationWe compared .30 genotype distributions and allele frequencies of the gene A1470T polymorphism between endurance MCT1 31 athletes, sprint/power athletes and matched

6566 - Gene ResultSLC16A1 solute carrier family 16 member

MCT1 is an efficient lactate exporter in MM cells and plays a role in tumor growth within an acidic microenvironment. Coeion of CAIV with MCT1 and MCT4 resulted in a significant increase in MCT transport activity. MCT1 gene A1470T polymorphism is associated with endurance athlete status and blood lactate level after intensive exercise. 6566 - Gene ResultSLC16A1 solute carrier family 16 member MCT1 is an efficient lactate exporter in MM cells and plays a role in tumor growth within an acidic microenvironment. Coeion of CAIV with MCT1 and MCT4 resulted in a significant increase in MCT transport activity. MCT1 gene A1470T polymorphism is associated with endurance athlete status and blood lactate level after intensive exercise.

A Common Polymorphism of the MCT1 Gene and Athletic

Jan 01, 2014 · Purpose:In red skeletal muscle, monocarboxylate transporter 1 (MCT1) is required for lactate to enter the myocytes for oxidation. The A1470T polymorphism (rs1049434) in the MCT1 gene was shown to be associated with lactate transport rates in human skeletal muscles. The aim of the study was to compare genotype and allele frequencies of the MCT1 gene polymorphism in 323 Russian An unexpected world population variation of MCT1 ABSTRACTA common missense mutation (1470T > A) in gene SLC16A1 responsible for an amino acid substitution in protein MCT1 has been associated with differential lactate transport and hence, differences in physical performance and muscle injuries in relation to physical exercise. This study describes, for the first time, the worldwide variation of MCT1 variant 1470T > A at an intra- and inter

An unexpected world population variation of MCT1

ABSTRACTA common missense mutation (1470T > A) in gene SLC16A1 responsible for an amino acid substitution in protein MCT1 has been associated with differential lactate transport and hence, differences in physical performance and muscle injuries in relation to physical exercise. This study describes, for the first time, the worldwide variation of MCT1 variant 1470T > A at an intra- and inter Association of a Common Polymorphism in the Factor XIII We have recently reported that a common point mutation (G T) in exon 2 of the factor XIII a-subunit gene is protective against myocardial infarction2 and predisposes to intracerebral hemorrhage.3 This polymorphism codes for a valine (Val) to leucine (Leu) amino acid change 3 amino acids from the factor XIII thrombin activation site, and our

BSG and MCT1 Genetic Variants Inuence Survival in

G C A T genes T A C G G C A T Article BSG and MCT1 Genetic Variants Inuence Survival in Multiple Myeloma Patients Piotr acina 1,*, Aleksandra Butrym 2, Grzegorz Mazur 2 and Katarzyna Bogunia-Kubik 1 1 Laboratory of Clinical Immunogenetics and Pharmacogenetics, Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, 53-114 Wrocaw, Poland; Complement Factor H Polymorphism in Age-Related Apr 15, 2005 · Age-related macular degeneration (AMD) is a major cause of blindness in the elderly. We report a genome-wide screen of 96 cases and 50 controls for polymorphisms associated with AMD. Among 116,204 single-nucleotide polymorphisms genotyped, an intronic and common variant in the complement factor H gene ( CFH ) is strongly associated with AMD (nominal P value <10-7).

Correlation of MCT1 and ABCC2 gene polymorphisms with

Jun 01, 2019 · However, a gene-wide tagging study revealed no association between ABCC2, ABCC5 and ABCG2 genetic polymorphisms and multidrug resistance in 590 Han Chinese patients with epilepsy . To our best knowledge, no reports about the genetic effects of MCT1, MCT2 and OATP2B1 on VPA efficacy are available. Correlation of MCT1 and ABCC2 gene polymorphisms with Jun 01, 2019 · However, a gene-wide tagging study revealed no association between ABCC2, ABCC5 and ABCG2 genetic polymorphisms and multidrug resistance in 590 Han Chinese patients with epilepsy . To our best knowledge, no reports about the genetic effects of MCT1, MCT2 and OATP2B1 on VPA efficacy are available.

DNA Polymorphisms:Meaning and Classes Genetics

SNPs are the most common type of DNA polymorphism, occurring with a frequency of one in 350 base pairs, and accounting for more than 90 per cent of DNA sequence variation. The majority of SNPs are found to be present in the non-coding regions of the genome, known as non-coding SNPs. Differences in MCT1 A1470T polymorphism prevalence The T1470A (rs1049434) polymorphism in the MCT1 gene (SLC16A1) is a single-nucleotide polymorphism (SNP) (Lean and Lee 2009;Merezhinskaya et

Differences in MCT1 A1470T polymorphism prevalence

The T1470A (rs1049434) polymorphism in the MCT1 gene (SLC16A1) is a single-nucleotide polymorphism (SNP) (Lean and Lee 2009;Merezhinskaya et Effects of the common polymorphism in the human RESEARCH Open Access Effects of the common polymorphism in the human aldehyde dehydrogenase 2 (ALDH2) gene on the lung Aoi Kuroda1, Ahmed E. Hegab1*, Gao Jingtao3, Shuji Yamashita2, Nobuyuki Hizawa4, Tohru Sakamoto4, Hideyasu Yamada4, Satoshi Suzuki5, Makoto Ishii1, Ho Namkoong1, Takanori Asakura1, Mari Ozaki1, Hiroyuki Yasuda1, Junko Hamamoto1, Shizuko

Engineering Synthetic Chromosomes by Sequential Loading

A common polymorphism of the MCT1 gene and athletic performance. Int. J. Sports Physiol. Perform. 2014; 9 :173-180 View in Article Functional Characterization of 5-Oxoproline Transport via The gene polymorphism brought about the SLC16A1 functional change-induced breakdown of homeostasis because SLC16A1 knock-out is lethal . Lactate as a classical substrate for SLC16A1 is a monocarboxylate with no structural resemblance to 5-oxoproline.

Functional Characterization of 5-Oxoproline Transport via

The gene polymorphism brought about the SLC16A1 functional change-induced breakdown of homeostasis because SLC16A1 knock-out is lethal . Lactate as a classical substrate for SLC16A1 is a monocarboxylate with no structural resemblance to 5-oxoproline. FunctionalCharacterizationof5-OxoprolineTransportvia SLC16A1/MCT1* allele frequency of this gene polymorphism is extremely high (minor allele frequency 0.3425). However, influence of the proline are common amino acids and exist principally as mul-tivalent ions at physiological pH. We investigated the transport of 5-oxoproline via SLC16A1

FunctionalCharacterizationof5-OxoprolineTransportvia

SLC16A1/MCT1* allele frequency of this gene polymorphism is extremely high (minor allele frequency 0.3425). However, influence of the proline are common amino acids and exist principally as mul-tivalent ions at physiological pH. We investigated the transport of 5-oxoproline via SLC16A1 Genetic Polymorphism and SNPs1 Genetic Polymorphism and SNPs Genotyping, Haplotype Assembly Problem, Haplotype Map, Functional Genomics and Proteomics February 19, 2002 Prepared by Kaleigh Smith

Genetic Variation:Polymorphisms and Mutations

than 1100 genes. Genes that show high mutation rates contribute disproportionately to human disease. The highest mutation rates (m) for genes causing human disease are estimated to be in the region of 510 per 100000 gametes per generation. Examples include the poly-cystic kidney disease 1(PKD1)gene, the most common Genetic polymorphism and variation - Encyclopédie de l A polymorphism can be described first at the scale of the DNA sequence of the locus encoding a protein. Some polymorphisms are synonymous, i.e. they do not change the amino acid sequence of the protein; they are often the most numerous polymorphisms. The others modify amino acids and are called replacement polymorphisms.

Genetic polymorphism studies in humans :Middle East

Apr 04, 2012 · Genetic polymorphism is defined as the inheritance of a trait controlled by a single genetic locus with two alleles, in which the least common allele has a frequency of about 1% or greater. Genetic polymorphism is a difference in DNA sequence among individuals, groups, or populations. Sources include single nucleotide polymorphisms (SNPs), sequence repeats, insertions, deletions, Influence of the MCT1 rs1049434 on Indirect Muscle ence of two common single nucleotide polymorphisms (SNPs) in the SLC16A1 gene [8]. In particular, the A>T SNP located in protein coding region (coding base 1470), converting #490 Glutamic amino acid to Aspartic amino acid was associated with a reduction of 3540 % in the erythrocytes lactate transport rate in two patients carrying the Tallele

MCT1 and CD147 gene polymorphisms in Standardbred

Aug 01, 2006 · The single polymorphism found in horses is in the cytoplasmic domain of MCTl as was the case in man, but in a different place (amino acid 457 for horse and 490 for human MCTI). Besides, the human polymorphism was much more frequent (40/89) (Merezhinskaya e f a / . 2000). In MCTl the only polymorphism that was found was in one of the control horses. MCT1 polymorphism among Egyptian children and polymorphism in its transporter protein; MCT1 [4]. MCT1 protein is composed of 500 amino acid residues (Figure 1) and encoded by the MCT1 gene (also known as SLC16A1). This gene is mapped on chromosome 1p13.2-p12and contains 5 exons. It spans about 44 kb, the first exon is non-coding, and the first intron is more than 26 kb [5]. The promoter region lacks

Mutations in MCT1 cDNA in patients with symptomatic

All had transport rates below the 95% envelope for normals. Three cases had rates 4050% of mean normal. One was found to have a missense mutation in monocarboxylate transporter 1 (MCT1), the gene for the red cell lactate transporter (also eed in skeletal muscle), at a conserved site, which was not mutated in a cohort of 90 normal humans. Mutations in MCT1 cDNA in patients with symptomatic All had transport rates below the 95% envelope for normals. Three cases had rates 4050% of mean normal. One was found to have a missense mutation in monocarboxylate transporter 1 (MCT1), the gene for the red cell lactate transporter (also eed in skeletal muscle), at a conserved site, which was not mutated in a cohort of 90 normal humans.

Role of the monocarboxylate transporter MCT1 in the

Fedotovskaya ON, Mustafina LJ, Popov DV, Vinogradova OL, Ahmetov II (2014) A common polymorphism of the mct1 gene and athletic performance. Int J Sports Physiol Perform 9:173180. doi:10.1123/IJSPP.2013-0026 CrossRef PubMed Google Scholar Role of the monocarboxylate transporter MCT1 in the uptake Fedotovskaya ON, Mustafina LJ, Popov DV, Vinogradova OL, Ahmetov II (2014) A common polymorphism of the mct1 gene and athletic performance. Int J Sports Physiol Perform 9:173180. doi:10.1123/IJSPP.2013-0026 CrossRef PubMed Google Scholar

SLC16A1 - Monocarboxylate transporter 1 - Homo sapiens

Nov 30, 2010 · Proton-coupled monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate. Depending on the tissue and on cicumstances, mediates the import or export of lactic The Common 866 G/A Polymorphism in the Promoter of Uncoupling protein (UCP) 2 is a member of the mitochondrial transporter superfamily that uncouples proton entry in the mitochondrial matrix from ATP synthesis. Although its physiological role remains to be established, UCP2 is considered a candidate gene for association with energy metabolism and obesity. A common promoter polymorphism, 866 G/A, has been associated with increased UCP2 gene

The impact of common polymorphisms in CETP and

The impact of common polymorphisms in CETP and ABCA1 genes with the risk of coronary artery disease in Saudi Arabians Cyril Cyrus1*, Chittibabu Vatte1, Awatif Al-Nafie2, Shahanas Chathoth1, Rudaynah Al-Ali2, Abdullah Al-Shehri2, Mohammed Shakil Akhtar2, Mohammed Almansori2, Fahad Al-Muhanna2, Brendan Keating3 and Amein Al-Ali1 The use of the SLC16A1 gene as a potential marker to Sep 11, 2019 · The key factor determining transmembrane lactate transport is the monocarboxylate transporter 1 protein coded for by the SLC16A1 gene. The aim of the present research was to identify polymorphisms in the coding sequence and UTRs in the equine SLC16A1 gene and to evaluate their potential association with race performance traits in Arabian horses.

(PDF) A Common Polymorphism of the MCT1 Gene and

A Common Polymorphism of the MCT1 Gene and Athletic Performance Download full-text PDF Read full The A1470T polymorphism (rs1049434) in MCT1 gene

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