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

Anil K. Agarwal; Elif Arioglu; Salome De Almeida; Nurullah Akkoc; Simeon I. Taylor; Anne M. Bowcock; Robert I. Barnes; Abhimanyu Garg

doi:10.1038/ng880

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

Anil K. Agarwal, Elif Arioglu, Salome De Almeida, Nurullah Akkoc, Simeon I. Taylor, Anne M. Bowcock, Robert I. Barnes, Abhimanyu Garg

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Abstract

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.

Original language	English (US)
Pages (from-to)	21-23
Number of pages	3
Journal	Nature genetics
Volume	31
Issue number	1
DOIs	https://doi.org/10.1038/ng880
State	Published - May 2002

ASJC Scopus subject areas

Genetics

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@article{7e4ef520ea6c4c2a90667f6d996976e2,

title = "AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34",

abstract = "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.",

author = "Agarwal, {Anil K.} and Elif Arioglu and {De Almeida}, Salome and Nurullah Akkoc and Taylor, {Simeon I.} and Bowcock, {Anne M.} and Barnes, {Robert I.} and Abhimanyu Garg",

note = "Funding Information: We thank the members of the families studied for their invaluable contribution to this project; A. Osborn, T. Petricek and A. Nguyen for management of DNA and patient databases, illustrations and technical assistance; R. Wilson and B. Crider for help in genotyping; J. Cohen for providing DNA samples of control subjects; C. Helms and J. Dawes for technical assistance and the nursing and dietetic services of the General Clinical Research Center for patient care support. This work was supported by grants from the National Institutes of Health and by the Southwestern Medical Foundation.",

year = "2002",

month = may,

doi = "10.1038/ng880",

language = "English (US)",

volume = "31",

pages = "21--23",

journal = "Nature genetics",

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publisher = "Nature Publishing Group",

number = "1",

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AU - Agarwal, Anil K.

AU - Arioglu, Elif

AU - De Almeida, Salome

AU - Akkoc, Nurullah

AU - Taylor, Simeon I.

AU - Bowcock, Anne M.

AU - Barnes, Robert I.

AU - Garg, Abhimanyu

N1 - Funding Information: We thank the members of the families studied for their invaluable contribution to this project; A. Osborn, T. Petricek and A. Nguyen for management of DNA and patient databases, illustrations and technical assistance; R. Wilson and B. Crider for help in genotyping; J. Cohen for providing DNA samples of control subjects; C. Helms and J. Dawes for technical assistance and the nursing and dietetic services of the General Clinical Research Center for patient care support. This work was supported by grants from the National Institutes of Health and by the Southwestern Medical Foundation.

PY - 2002/5

Y1 - 2002/5

N2 - 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.

AB - 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.

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

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