Molecular Basis of CD36 Deficiency

We have analyzed molecular basis of CD36 deficiency and identified three mutations responsible for CD36 deficiency: 1) a 478C→T substitution in codon 90 (proline90→serine), 2) a dinucleotide deletion in colon 110, and 3) a single nucleotide insertion in codon 317. The 478C→T (proline90→serine) substitution seemed to be the most common mutation. We have demonstrated that the 478C→T substitution directly leads to CD36 deficiency via defects in posttranslational modification of the 81-kD precursor form of CD36. In addition to these three mutations, we have suggested that an allele having platelet-specific mRNA expression defects may be involved in type II CD36 deficient phenotype by the comparison between platelet and monocyte CD36 mRNA.