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Neurology 1999;53:1570
© 1999 American Academy of Neurology
Brief Communications

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

S.-I. Woo, L. A. Hansen, MD, X. Yu, M. Mallory and E. Masliah, MD

From the Department of Psychiatry (S.-I. Woo), Gyeongsang National University Medical School, Chilam-Dong, Chinju, Gyeongnam, South Korea; and the Departments of Neurosciences (Drs. Hansen and Masliah, and X. Yu and M. Mallory) and Pathology (Drs. Hansen and Masliah), University of California, San Diego, La Jolla, CA.

Address correspondence and reprint requests to Dr. E. Masliah, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093-0624; e-mail: emasliah @ucsd.edu

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.

Key words: CYP2D gene—Alternative splicing—Sequencing data—Human brain—Lewy body disease—AD.




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