Polymorphism of thePEMTgene and susceptibility to nonalcoholic fatty liver disease (NAFLD)
| Autor: | Lester Kwock, Martin Kohlmeier, Jiannan Song, Steven H. Zeisel, Kerry Ann Da Costa, Shuli Wang, Leslie M. Fischer |
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| Rok vydání: | 2005 |
| Předmět: |
Adult
Male medicine.medical_specialty Adolescent Phosphatidylethanolamine N-Methyltransferase Mutant Single-nucleotide polymorphism Biology Polymorphism Single Nucleotide Biochemistry Article chemistry.chemical_compound Exon Cell Line Tumor Internal medicine Nonalcoholic fatty liver disease Genetics medicine Animals Humans Choline Genetic Predisposition to Disease Child Molecular Biology Aged Fatty liver Middle Aged medicine.disease Rats Fatty Liver Endocrinology chemistry Child Preschool Knockout mouse Female Liver function Biotechnology |
| Zdroj: | The FASEB Journal. 19:1266-1271 |
| ISSN: | 1530-6860 0892-6638 |
| Popis: | Phosphatidylethanolamine N-methyltransferase (PEMT) catalyzes phosphatidylcholine synthesis. PEMT knockout mice have fatty livers, and it is possible that, in humans, nonalcoholic fatty liver disease (NAFLD) might be associated with PEMT gene polymorphisms. DNA samples from 59 humans without fatty liver and from 28 humans with NAFLD were genotyped for a single nucleotide polymorphism in exon 8 of PEMT which leads to a V175M substitution. V175M is a loss of function mutation, as determined by transiently transfecting McArdle-RH7777 cells with constructs of wildtype PEMT open reading frame or the V175M mutant. Met/Met at residue 175 (loss of function SNP) occurred in 67.9% of the NAFLD subjects and in only 40.7% of control subjects (p< 0.03). For the first time we report that a polymorphism of the human PEMT gene (V175M) is associated with diminished activity and may confer susceptibility to NAFLD. |
| Databáze: | OpenAIRE |
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