Genetic basis of lipodystrophies and management of metabolic complications

Research output: Contribution to journalReview articlepeer-review

119 Scopus citations


Selective loss of body fat is the hallmark of patients with lipodystrophies. Among genetic lipodystrophies, fat loss is observed either from birth, as in congenital generalized lipodystrophy, or later in life, as in familial partial lipodystrophy. The extent of fat loss also varies among subtypes of lipodystrophies. Patients develop hyperinsulinemia, acanthosis nigricans, hypertriglyceridemia, diabetes mellitus, and hepatic steatosis. Defects in several genes, such as those encoding an enzyme (AGPAT2), a nuclear receptor (PPARγ), a nuclear lamina protein (LMNA) and its processing endoprotease (ZMPSTE24), a kinase (AKT2), and a protein of unknown function (BSCL2), have been found in patients with genetic lipodystrophies. Additional loci remain to be discovered. We discuss features of autosomal recessive and dominant types of lipodystrophies and therapeutic interventions available for these patients.

Original languageEnglish (US)
Pages (from-to)297-311
Number of pages15
JournalAnnual review of medicine
StatePublished - 2006


  • Acyltransferases
  • Kinase
  • Lamins A/C
  • PPARγ
  • Zinc metalloproteinase

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


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