Genetic basis of congenital generalized lipodystrophy

A. K. Agarwal, R. I. Barnes, A. Garg

Research output: Contribution to journalArticle

36 Citations (Scopus)

Abstract

Congenital generalized lipodystrophy (CGL) is an autosomal recessive disorder characterized by extreme lack of body fat and severe insulin resistance since birth. Recently, mutations have been reported in 1-acylglycerol-3-phosphate-O-acyltransferase 2 (AGPAT2) and Berardinelli-Seip congenital lipodystrophy 2 (BSCL2 or Seipin) genes in affected subjects from pedigrees linked to chromosomes 9q34 and 11q13, respectively. The AGPAT2 catalyses the acylation of the lysophosphatidic acid at the sn-2 position to form phosphatidic acid, a key intermediate in the biosynthesis of triacylglycerol and glycerophospholipids. High expression of AGPAT2 mRNA in adipose tissue compared to other isoforms suggests that the mutations might affect the adipose tissue the most. The function of BSCL2 remains unknown. Several CGL pedigrees reveal no mutation in either of the above genes and are not linked to these loci, suggesting additional genetic loci for CGL. Thus, several distinct mechanisms can lead to extreme lack of adipose tissue in humans and cause CGL.

Original languageEnglish (US)
Pages (from-to)336-339
Number of pages4
JournalInternational Journal of Obesity
Volume28
Issue number2
StatePublished - Feb 2004

Fingerprint

Congenital Generalized Lipodystrophy
acyltransferases
acylglycerols
adipose tissue
phosphates
Adipose Tissue
mutation
pedigree
Glycerides
Acyltransferases
Pedigree
loci
acylation
1-Acylglycerol-3-Phosphate O-Acyltransferase
acids
Mutation
insulin resistance
body fat
Phosphates
Glycerophospholipids

Keywords

  • AGPAT2
  • BSCL2
  • Genetic
  • Insulin resistance
  • Lipodystrophy

ASJC Scopus subject areas

  • Medicine (miscellaneous)
  • Public Health, Environmental and Occupational Health
  • Endocrinology
  • Food Science
  • Endocrinology, Diabetes and Metabolism

Cite this

Genetic basis of congenital generalized lipodystrophy. / Agarwal, A. K.; Barnes, R. I.; Garg, A.

In: International Journal of Obesity, Vol. 28, No. 2, 02.2004, p. 336-339.

Research output: Contribution to journalArticle

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