A CD36 nonsense mutation associated with insulin resistance and familial type 2 diabetes.

Frédéric Leprêtre, Francis Vasseur, Martine Vaxillaire, Philipp E. Scherer, Saira Ali, Kenneth Linton, Timothy Aitman, Philippe Froguel

Research output: Contribution to journalArticle

44 Scopus citations

Abstract

Mutations in CD36 / fatty acid translocase (FAT) gene are responsible for insulin resistance in the rat but contribution to human Type 2 diabetes is unknown. A nominal evidence for linkage of familial T2D at the CD36 locus led us to identify a rare nonsense mutation c.1079T>G (p.L360X) in one Caucasian pedigree presenting with autosomal dominant diabetes. Adiponectin levels, as marker of insulin sensitivity, were found to be significantly lower in the p.L360X variant carriers compared to homozygous for wild type CD36. Furthermore, expression studies of the truncated protein showed a defective binding of acetylated-LDL. Thus, our findings suggest a possible role for CD36 in the pathogenesis of T2D associated with reduced insulin sensitivity.

Original languageEnglish (US)
Number of pages1
JournalHuman mutation
Volume24
Issue number1
StatePublished - Jul 2004

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Leprêtre, F., Vasseur, F., Vaxillaire, M., Scherer, P. E., Ali, S., Linton, K., Aitman, T., & Froguel, P. (2004). A CD36 nonsense mutation associated with insulin resistance and familial type 2 diabetes. Human mutation, 24(1).