ミトコンドリア脳筋症におけるヘテロプラスミー(heteroplasmy)と臨床症状,病理所見の関連性の研究
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概要
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In most cases of the mitochondrial encephalomyopathies, the mutations of mtDNA usually appear in heteroplasmic states. The degree of mtDNA heteroplasmy has been suggested to play an important role in determining the clinical phenotypes and the organspecific defects. We devised a novel method for quantitative analysis of heteroplasmy using PCR-SSCP, which is useful to accurately quantitate heteroplasmy of very small amount of samples. Using this method, we analyzed the heteroplasmy of skeletal muscles or leucocytes from 12 cases of MERRF, 5 cases of MELAS, and 1 case of MERRF/MELAS overlap syndrome associated with 3243 tRNA^<Leu(UUR)> mutation. We furthermore analyzed 5 autopsied cases (2 MERRF and 2 MELAS, 1 MERRF/MELAS overlap syndrome patients), and the cellular or organellar distributions of heteroplasmy of CNS in MERRF patients. Though there is a tendency that patients with high percentages of mutant mtDNAs in their skeletal muscles show severer clinical symptoms and earlier onset than those with low percentages, no obvious correlation was observed between the phenotype and genotype of leukocyte in MERRF and MELASpatients. And the percentages of mutant mtDNA were similarly high in both clinically affected and unaffected tissues in 2 MERRF, 2 MELAS, and 1 MERRF/MELAS overlap syndrome patients. Single muscle fiber analysis, however, revealed that the proportion of mutant mtDNA was significantly higher in ragged-red fibers than in non-ragged-red fibers.
- 2002-12-10
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関連論文
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- ミトコンドリア脳筋症におけるヘテロプラスミー(heteroplasmy)と臨床症状,病理所見の関連性の研究
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