High prevalence of the COII/tRNA(Lys) intergenic 9-bp deletion in mitochondrial DNA of Taiwanese patients with MELAS or MERRF syndrome.
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.
Liu
Chin-San
CS
Vascular and Genomic Research Center, Changhua Christian Hospital, Taiwan.
Cheng
Wen-Ling
WL
Chen
Yi-Yun
YY
Ma
Yi-Shing
YS
Pang
Cheng-Yoong
CY
Wei
Yau-Huei
YH
D044466:Asian People / Q000235:genetics; D020029:Base Pairing; D001483:Base Sequence; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics*; D003576:Electron Transport Complex IV / Q000235:genetics*; D006801:Humans; D017241:MELAS Syndrome / Q000235:genetics*; D017243:MERRF Syndrome / Q000235:genetics*; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic / Q000235:genetics; D012357:RNA, Transfer, Lys / Q000737:chemistry / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*; D013624:Taiwan
D004272:DNA, Mitochondrial; D012357:RNA, Transfer, Lys; C117108:cytochrome C oxidase subunit II; D003576:Electron Transport Complex IV