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A CD36 nonsense mutation associated with insulin resistance and familial type 2 diabetes
Author(s) -
Leprêtre Frédéric,
Vasseur Francis,
Vaxillaire Martine,
Scherer Philipp E.,
Ali Saira,
Linton Kenneth,
Aitman Timothy,
Froguel Philippe
Publication year - 2004
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9256
Subject(s) - library science , biology , humanities , genetics , medicine , philosophy , computer science
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. © 2004 Wiley‐Liss, Inc.