AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34

被引：381

作者：

Agarwal, AK

Arioglu, E

de Almeida, S

Akkoc, N

Taylor, SI

Bowcock, AM

Barnes, RI

Garg, A

机构：

[1] Univ Texas, SW Med Ctr, Dept Internal Med, Div Nutr & Metab Dis, Dallas, TX 75390 USA

[2] Univ Texas, SW Med Ctr, McDermott Ctr Human Growth & Dev, Ctr Human Nutr, Dallas, TX 75390 USA

[3] NIDDKD, Diabet Branch, Bethesda, MD 20892 USA

[4] Hosp Dona Estefania, Serv Genet Med, Lisbon, Portugal

[5] Dokuz Eylul Univ, Sch Med, Dept Internal Med, Izmir, Turkey

[6] Washington Univ, Sch Med, Dept Genet, Div Human Genet, St Louis, MO 63110 USA

[7] Washington Univ, Sch Med, Dept Pediat, St Louis, MO 63110 USA

[8] Washington Univ, Sch Med, Dept Med, St Louis, MO 63110 USA

[9] Univ Texas, SW Med Ctr, McDermott Ctr Human Growth & Dev, Dallas, TX USA

来源：

NATURE GENETICS | 2002年 / 31卷 / 01期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1038/ng880

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Congenital generalized lipodystrophy is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. We report several different mutations of the gene (AGPAT2) encoding 1-acylglycerol-3-phosphate O-acyltransferase 2 in 20 affected individuals from 11 pedigrees of diverse ethnicities showing linkage to chromosome 9q34. The AGPAT2 enzyme catalyzes the acylation of lysophosphatidic acid to form phosphatidic acid, a key intermediate in the biosynthesis of triacylglycerol and glycerophospholipids. AGPAT2 mRNA is highly expressed in adipose tissue. We conclude that mutations in AGPAT2 may cause congenital generalized lipodystrophy by inhibiting triacylglycerol synthesis and storage in adipocytes.

引用

页码：21 / 23

页数：3

共 15 条

[1] Human lysophosphatidic acid acyltransferase - cDNA cloning, expression, and localization to chromosome 9q34.3 [J].