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High Prevalence of the COII/tRNA Lys Intergenic 9‐bp Deletion in Mitochondrial DNA of Taiwanese Patients with MELAS or MERRF Syndrome
Author(s) -
LIU CHINSAN,
CHENG WENLING,
CHEN YIYUN,
MA YISHING,
PANG CHENGYOONG,
WEI YAUHUEI
Publication year - 2005
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1196/annals.1338.058
Subject(s) - mitochondrial encephalomyopathy , mitochondrial dna , melas syndrome , genetics , mitochondrial encephalomyopathies , biology , lactic acidosis , myoclonic epilepsy , human mitochondrial genetics , mitochondrial myopathy , gene , epilepsy , endocrinology , neuroscience
A bstract : The COII/tRNA Lys 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.