Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The VSports app下载. gov means it’s official. Federal government websites often end in . gov or . mil. Before sharing sensitive information, make sure you’re on a federal government site. .

Https

The site is secure. The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely. V体育官网.

. 2005 Aug;19(10):1266-71.
doi: 10.1096/fj.04-3580com.

VSports最新版本 - Polymorphism of the PEMT gene and susceptibility to nonalcoholic fatty liver disease (NAFLD)

Jiannan Song  1 , Kerry Ann da Costa, Leslie M Fischer, Martin Kohlmeier, Lester Kwock, Shuli Wang, Steven H Zeisel
Affiliations

VSports app下载 - Polymorphism of the PEMT gene and susceptibility to nonalcoholic fatty liver disease (NAFLD)

Jiannan Song et al. FASEB J. 2005 Aug.

Abstract

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 wild-type 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. VSports手机版.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Val to Met substitution at residue 175 of PEMT leads to expression of PEMT with reduced activity. McArdle-RH7777 cells were transiently transfected with plasmids containing sequence for wild type PEMT (WT) or V175M mutated form (V175M) or vector only (Vector). 50 μg of total particulate protein from cells harvested 48 hr after transfection was used for PEMT activity assay in the presence of 200 μM AdoMet. Results are expressed as mean ± standard error for n=3/group. Open bars: Activity expressed as pmol phosphatidylcholine formed per mg protein per hour. Hatched bars: Activity expressed as pmol phosphatidylcholine formed per integrated optical density of FLAG epitope per hour. The experiment was duplicated with similar results. * = p<0.01 by one way ANOVA; ** = p<0.005 by one way ANOVA.
See this image and copyright information in PMC

Comment in

References

    1. Browning JD, Horton JD. Molecular mediators of hepatic steatosis and liver injury. J Clin Invest. 2004;114:147–152. - PMC - PubMed
    1. Brunt EM. Nonalcoholic steatohepatitis: definition and pathology. Semin Liver Dis. 2001;21:3–16. - PubMed
    1. Falck-Ytter Y, Younossi ZM, Marchesini G, McCullough AJ. Clinical features and natural history of nonalcoholic steatosis syndromes. Semin Liver Dis. 2001;21:17–26. - "V体育ios版" PubMed
    1. Zeisel SH, daCosta KA, Franklin PD, Alexander EA, Lamont JT, Sheard NF, Beiser A. Choline, an essential nutrient for humans. FASEB J. 1991;5:2093–2098. - PubMed (V体育ios版)
    1. Buchman A, Dubin M, Moukarzel A, Jenden D, Roch M, Rice K, Gornbein J, Ament M. Choline deficiency: a cause of hepatic steatosis during parenteral nutrition that can be reversed with intravenous choline supplementation. Hepatology. 1995;22:1399–1403. - PubMed

Publication types

Substances