RGD Reference Report - A CD36 nonsense mutation associated with insulin resistance and familial type 2 diabetes. - Rat Genome Database

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

Authors: Lepretre, F  Vasseur, F  Vaxillaire, M  Scherer, PE  Ali, S  Linton, K  Aitman, T  Froguel, P 
Citation: Lepretre F, etal., Hum Mutat. 2004 Jul;24(1):104.
RGD ID: 2307218
Pubmed: PMID:15221799   (View Abstract at PubMed)
DOI: DOI:10.1002/humu.9256   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
type 2 diabetes mellitus  IAGP 2307218DNA:nonsense mutation: :p.L360XRGD 
type 2 diabetes mellitus  ISOCD36 (Homo sapiens)2307218; 2307218DNA:nonsense mutation: :p.L360XRGD 

Objects Annotated

Genes (Rattus norvegicus)
Cd36  (CD36 molecule)

Genes (Mus musculus)
Cd36  (CD36 molecule)

Genes (Homo sapiens)
CD36  (CD36 molecule (CD36 blood group))


Additional Information