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aVascular and Genomic Research Center,Changhua Christian Hospital, Changhua 500, Taiwan bDepartment of Neurology, Changhua Christian Hospital, Changhua 500, Taiwan cDepartment of Biochemistry and Molecular Biology, and Center for Cellular and Molecular Biology, National Yang-Ming University, Taipei 112, Taiwan
Address for correspondence: Yau-Huei Wei, Department of Biochemistry and Molecular Biology, School of Life Science, National Yang-Ming University, Taipei 112, Taiwan. Voice: +886-2-28267118; fax: +886-2-28264843. joeman{at}ym.edu.tw
The COII/tRNALys intergenic 9-bp deletion (MIC9D) of mitochondrial DNA (mtDNA) has been established as a genetic polymorphism for Asian-Pacific populations. We investigated whether this small mtDNA deletion is co-transmitted with human diseases such as mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) and myoclonic epilepsy with ragged-red fibers (MERRF) syndromes. Forty unrelated Taiwanese families, including 12 families with MERRF and A8344G mtDNA mutation and 28 families with MELAS and A3243G mutation of mtDNA, respectively, were recruited in this study. In addition, 199 healthy subjects were recruited as control. We found that the frequency of occurrence of mtDNA with the MIC9D polymorphism in healthy subjects was 21% (41/199). However, the incidence of the MIC9D polymorphism was 67% (8/12) among the probands of all the families with MERRF syndrome (P = 0.001; OR = 8) and 39% (11/28) among the probands of the families with MELAS syndrome (P = 0.038; OR = 2). This finding indicates that the frequency of occurrence of mtDNA with the MIC9D polymorphism in patients with MERRF or MELAS syndrome is higher than that of healthy subjects. The prevalence of mitochondrial encephalomyopathies in relation to the MIC9D polymorphism of mtDNA in Taiwanese population is discussed.
Key Words: mitochondrial disease • 9-bp deletion • MELAS • MERRF • Taiwanese
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