Alternative splicing patterns of CYP2D genes in human brain and neurodegenerative disorders.

Abstract

The expression patterns of alternatively spliced forms of the CYP2D (6, 7, 7A, 7B) gene were analyzed in the brains of individuals with Lewy body disease (LBD) and correlated with CYP2D6 polymorphisms. Five different alternatively spliced transcripts were identified. The most common was the deletion of exon 6 (87.3% of cases), followed by a 91-base pair fragment deletion at the 3' end of the gene (63.9% of cases). There was no correlation between the polymorphisms in the CYP2D6B gene or presence of LBD and these five alternatively spliced transcripts. Susceptibility to LBD may occur through mechanisms other than altered mRNA splicing of the CYP2D6 gene.