Molecular basis of CD36 deficiency. Evidence that a 478C-->T substitution (proline90-->serine) in CD36 cDNA accounts for CD36 deficiency.

Abstract

69:481-484). In this study, we revealed that monocyte CD36 cDNA from two type II deficient subjects was heterozygous for C478 and T478 form, while platelet CD36 cDNA of these subjects consisted of only T478 form. In a type I deficient subject, both platelet and monocyte CD36 cDNA showed only T478 form. Expression assay using C478 or T478 form of CD36 cDNA transfected cells revealed that there was an 81-kD precursor form of CD36, and that the maturation of the 81-kD precursor form to the 88-kD mature form of CD36 was markedly impaired by the substitution. The mutated precursor form of CD36 was subsequently degraded in the cytoplasm. These results indicate that the 478C-T substitution directly leads to CD36 deficiency via defects in posttranslational modification, and that this substitution is the major defects underlying CD36 deficiency. (J. Clin. Invest. 1995. 95:1040-1046

Scintigraphic Evidence for a Specific Long-Chain Fatty Acid Transporting System Deficit and the Genetic Background in a Patient With Hypertrophic Cardiomyopathy

“…This type of mutation is one of the CD36 mutations responsible for impaired CD36 expression on blood cells. [11][12][13] Therefore, it is likely that type I CD36 deficiency involves a deficit of CD36 expression on myocytes as well as on platelets and monocytes, and is responsible for impaired uptake of long-chain fatty acids and their analogues, BMIPP and 9MPA, in the myocardium. In clinical trial phases I, II, and III for cardiac imaging with 123 I-BMIPP performed from 1990 to 1992 in Japan, poor cardiac uptake of the radiotracer was documented in 4 (0.54%) out of 746 subjects (unpublished data provided by Nihon Mediphysics, Ltd, Osaka, Japan, 1998).…”

CD36 Genotype and Long-Chain Fatty Acid Uptake in the Heart.

“…8 In addition to the effects of CD36 -/-on the LCFA uptake in the heart, CD36 -/-resulted in a lack of CD36 expression in platelets and monocytes, referred to as type I CD36 deficiency. 12 We recently found a strong association between the genotype in the coding region of CD36 and the expression level of CD36. Heterozygous mutations in the coding region of this gene (hereafter referred to as CD36 +/-) resulted in the reduced expression of CD36 in monocytes, approximately half that observed in the wild-type gene (hereafter referred to as WT).…”

Missense mutations in the β3 subunit have a different impact on the expression and function between αIIbβ3 and αvβ3

“…28 The 293 cells transiently expressing ␣ IIb ␤ 3 or ␣ v ␤ 3 were obtained and analyzed 2 days after transfection. In selected experiments, 100 ng green fluorescent protein (GFP) expression vector pEGFP-C1 (Clontech, Palo Alto, CA) was cotransfected with ␤ 3 and either ␣IIb or ␣v construct into 293 cells to monitor transfection efficiency.…”