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(Arteriosclerosis, Thrombosis, and Vascular Biology. 1996;16:1026-1032.)
© 1996 American Heart Association, Inc.

Articles

A Single Nucleotide Insertion in Codon 317 of the CD36 Gene Leads to CD36 Deficiency

Hirokazu Kashiwagi; Yoshiaki Tomiyama; Shuichi Nozaki; Shigenori Honda; Satoru Kosugi; Masamichi Shiraga; Tsutomu Nakagawa; Nobuo Nagao; Yuzuru Kanakura; Yoshiyuki Kurata; Yuji Matsuzawa

the Second Department of Internal Medicine (H.K., Y.T., S.N., S.H., S.K., M.S., T.N., Y. Kanakura, Y.M.), Osaka University Medical School, the Department of Blood Transfusion (Y. Kurata), Osaka University Hospital, and the Osaka Red Cross Blood Center (N.N.), Osaka, Japan.

Correspondence to Yoshiaki Tomiyama, MD, the Second Department of Internal Medicine, Osaka University Medical School, 2-2 Yamadaoka, Suita 565, Japan.

CD36 is a multifunctional integral-membrane glycoprotein that acts as a receptor for thrombospondin, collagen, long-chain fatty acids, and oxidized LDL. Platelet CD36 deficiency can be divided into two groups. In type I, neither platelets nor monocytes/macrophages express CD36; in type II, monocytes/macrophages express CD36 but platelets do not. Two known mutations cause CD36 deficiency, ie, a ⁴⁷⁸CT substitution in codon 90 (proline90serine) and a dinucleotide deletion at nucleotide 539 in codon 110. In this study we investigated a type I Japanese subject (A.T.) and identified a new mutation, a single nucleotide insertion at nucleotide 1159 in codon 317. This mutation leads to a frameshift and the appearance of a premature stop codon. CD36 gene analysis indicated that A.T. was a compound heterozygote for a dinucleotide deletion at nucleotide 539 and the single nucleotide insertion at nucleotide 1159. RNase protection studies suggested that the new mutation as well as the dinucleotide deletion led to a marked reduction in the level of CD36 mRNA in her macrophages. However, the new mutation could be detected in macrophage but not platelet CD36 mRNA. These data suggest that the allele having the single nucleotide insertion in this subject has an additional abnormality that results in the absence of the mutated CD36 mRNA in platelets.

Key Words: CD36 • CD36 deficiency • insertion • monocyte/macrophage • platelet

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