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

Human Mutation
F LeprêtreP Froguel

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.

Citations

May 21, 2005·Atherosclerosis·Jane E MurphySreenivasan Ponnambalam
Jul 13, 2013·Diabetes Technology & Therapeutics·Sunaina GautamMonisha Banerjee
Mar 25, 2011·Metabolic Syndrome and Related Disorders·David J Kennedy, Sangeeta R Kashyap
Feb 29, 2008·Human Molecular Genetics·Latisha Love-GregoryNada A Abumrad
Oct 12, 2010·Human Molecular Genetics·Latisha Love-GregoryNada A Abumrad
Aug 26, 2011·The Journal of Clinical Investigation·Nada A Abumrad, Darren J Moore
Aug 13, 2014·Trends in Parasitology·Ana CabreraKevin C Kain
Jun 6, 2009·Biomarkers : Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals·Toshiyuki MoriiTakao Saruta
Jan 22, 2011·Archives of Physiology and Biochemistry·Debby P Y KoonenAase Handberg
Feb 3, 2016·Applied Physiology, Nutrition, and Metabolism = Physiologie Appliquée, Nutrition Et Métabolisme·Avindra F JayewardeneKieron B Rooney
May 1, 2007·The International Journal of Biochemistry & Cell Biology·Maria Febbraio, Roy L Silverstein
Nov 28, 2006·Nutrition, Metabolism, and Cardiovascular Diseases : NMCD·Cristina de Oliveira SilvaNuria Pares-Herbute
Aug 17, 2006·Diabetic Medicine : a Journal of the British Diabetic Association·E CorpeleijnE E Blaak
Oct 2, 2007·Protein Science : a Publication of the Protein Society·Catherine A MartinKenneth J Linton
Apr 11, 2015·BioMed Research International·Tatiana KhodyuchenkoAnna Kostareva
Oct 5, 2006·Endocrine Reviews·Susanne M Clee, Alan D Attie
Nov 3, 2016·European Journal of Clinical Nutrition·A F JayewardeneK B Rooney
May 12, 2018·Diabetes·Dmitri SamovskiNada A Abumrad

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