- 作者: Chin-Chang Huang a, Hung-Chou Kuo a, Chen-Che Chu a, Chia-Wei Liou b, Yi-Shing Ma c, Yau-Huei Wei c
- 作者服務機構: a Department of Neurology, Chang Gung Memorial Hospital and University, b Department of Neurology, Chang Gung Memorial Hospital, c Department of Biochemistry and Center for CelluIar and Molecular Biology, National Yang-Ming University, Taipei, Taiwan, ROC
- 中文摘要: --
- 英文摘要: We studied 42 individuals, including 8 patients with ei-ther complete or partial syndrome of mitochondrial my-opathy, encephalopathy, lactic acidosis and stroke-likeepisodes (MELAS), 8 patients with either complete orpartial syndrome of myoclonic epilepsy with ragged-redfibers (MERRF) and 26 maternal family members whocarried either the A3243G or A8344G mutation of mito-chondrial DNA (mtDNA). Clinical manifestations andprognosis were followed up in the patients harboring theA3243G or A8344G mutation. The relationship betweenclinical features and proportions of mutant mtDNAs inmuscle biopsies, blood cells and/or hair follicles wasstudied. In the 8 regularly followed patients with theA3243G mutation, 4 died within 1 month to 7 years dueto status epilepticus and/or recurrent stroke-like epi-sodes. Two patients developed marked mental deterio-ration and 2 remained stationary. All of the patients har-boring the A8344G mutation were stable or deterioratedslightly, except for 1 patient who died due to brain her-niation after putaminal hemorrhage. The A3243G andA8344G mtDNA mutations were heteroplasmic in themuscle biopsies, blood cells and hair follicles of both theprobands and their maternal family members. The meanproportion of A3243G mutant mtDNA in the muscle biop-sies of the patients with MELAS syndrome (68.5±21.3%, range 33-92%) was significantly higher than thatof the asymptomatic family members (37.1±12.6%,range 0-51%). The average proportions of A8344G mu-tant mtDNA in the muscle biopsies (90.1±3.9%, range89-95%) and hair follicles (93.9±6.4%, range 84-99%)of the patients with MERRF syndrome were also signifi-cantly higher than those of the asymptomatic familymembers (muscle: 40.3±39.5%, range 1-80%; hair folli-cles: 51.0±44.5%, range 0.1-82%). We concluded thatmeasurement of the proportion of mutant mtDNA inmuscle biopsies may provide useful information in theidentification of symptomatic patients with mitochon-drial encephalomyopathies. For patients with theA3243G mutation, the prognosis was related to statusepilepticus and the number of recurrent stroke-like epi-sodes and was much worse than for patients with theA8344G mutation of mtDNA, who had stable or slowlydeteriorating clinical courses.
- 中文關鍵字: --
- 英文關鍵字: MELAS, MERRF, Molecular analysis, Mitochondrial DNA, Mutation, Heteroplasmy, Phenotype, Prognosis