High Prevalence of the COII/tRNALysIntergenic 9-bp Deletion in Mitochondrial DNA of Taiwanese Patients with MELAS or MERRF Syndrome

The COII/tRNA Lys intergenic 9-bp deletion (MIC9D) of mitochon- drial 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 fam- ilies, including 12 families with MERRF and A8344G mtDNA mutation and 28 families with MELAS and A3243G mutation of mtDNA, respectively, were re- cruited in this study. In addition, 199 healthy subjects were recruited as con- trol. 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 fam- ilies 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 find- ing indicates that the frequency of occurrence of mtDNA with the MIC9D poly- morphism 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.