Genotypic Drift of Mitochondrial DNA in a Patient with Leber's Hereditary Optic Neuropathy

Leber氏遺傳性視神經病變粒線體基因之基因型漂變

顏美媛(May-Yung Yen) ； 劉榮宏(Jorn-Hon Liu) ； 魏耀揮(Yau-Huei Wei)

《中華民國眼科醫學會雜誌》 39卷3期 (2000/09) Pp. 298-302

https://doi.org/10.30048/ACTASOS.200009.0013

摘要

本文報告一例Leber氏遺傳性視神經病變病人粒線體基因11778突變在五年之間從異質變為同質。五年前病人的哥哥兩眼突然喪失視力，經粒線體基因檢查證實罹患Leber氏遺傳性視神經病變，為11778點突變。當時本病人也接受檢查，視力、色覺及眼底都正常，粒線體基因檢查為異質11778點突變。五年後本病人也發病，兩眼突然喪失視力。再次的粒線體基因檢查發現為同質11778點突變。

並列摘要

We report the drift of genotype from heteroplasmic to homoplasmic mutation at np 11778 of mitochondrial DNA (mtDNA) within 5 years in a 32-year-old patient with Leber's hereditary optic neuropathy (LHON). The patient underwent molecular test for the 11778 mtDNA mutation 5 years ago when his brother developed LHON and he was visually normal. At that time, the genotypic analysis revealed a heteroplasmic mutation at nuclotide position 11778 of the mtDNA. Five years later, the patient developed LHON. The molecular test for the 11778 mtDNA mutation was repeated. The mtDNA mutation converted to a homoplasmic state. Genotypic analysis demonstrated that rapid drift of mtDNA genotype in an individual can occur and the mutant mtDNA may reach the level that is required to cause the clinical features of LHON.

並列關鍵字

Leber's hereditary optic neuropathy ； mitochondrial DNA mutation ； homoplasmy ； heteroplasmy