A Case of Leber's Hereditary Optic Nouropathy Showing 11778 Point Mutation of Mitochondrial DNA.
10.12701/yujm.1999.16.1.114
- Author:
Yun Seok JUNG
1
;
Seung Kwon PARK
;
Seung Yeop LEE
;
Jung Sang HAH
;
Mee Yeoung PARK
;
Se Jin LEE
;
Jun LEE
Author Information
1. Department of Neurogy College of Medicine, Yeungnam University, Taegu, Korea.
- Publication Type:Case Report
- Keywords:
Leber's hereditary optic neuropathy
- MeSH:
Adenine;
Blindness;
DNA, Mitochondrial*;
Guanine;
Humans;
Male;
Middle Aged;
Optic Atrophy, Hereditary, Leber;
Optic Nerve Diseases;
Point Mutation*
- From:Yeungnam University Journal of Medicine
1999;16(1):114-118
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Leber's hereditary optic neuropathy(LHON) is an optic nerve disease that causes blindness and is associated with maternally inherited mitochondrial DNA(mt DNA) mutations. The most common mitochondrial DNA mutation among LHON patients is a point mutation at the nucleotide 11778 in the subunit 4 of complex I. In one 45-year old male LHON patient with bilateral optic neuropathy, we investigated the presence of a point mutation of mitochondrial DNA and identified a single guanine to adenine transition mutation in the mitochondrial DNA at nucleotide point 11778.
