Journal of the Korean Ophthalmological Society 2003;44(5):1153-1158.
Published online May 1, 2003.
Molecular Genetic Study on Primary and Secondary Mitochondrial DNA Mutations of Leber's Hereditary Optic Neuropathy in Koreans.
Jeong Min Hwang, Ji Yeon Kim, Hyun Soo Ko, Sung Sup Park, Bong Leen Chang
1Department of Ophthalmology, Seoul National University Bundang Hospital, Sungnam, Kyung-gi, Korea.
2Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea. blchang@plaza.snu.ac.kr
3Department of Clinical Pathology, Seoul National University College of Medicine, Seoul, Korea.
4Seoul National University Hospital Clinical Research Institute, Seoul, Korea.
일차 및 이차적 사립체점돌연변이 검사를 통한 한국인 Leber씨 유전성 시신경병증의 분자유전학적 연구
황정민 ( Jeong Min Hwang ) , 김지연 ( Ji Yeon Kim ) , 고현수 ( Hyun Soo Ko ) , 박성섭 ( Sung Sup Park ) , 장봉린 ( Bong Leen Chang )
Abstract
PURPOSE
In order to evaluate the spectrum of mitochondrial DNA (mtDNA) mutations in the patients with suspected Leber's hereditary optic neuropathy (LHON). METHODS: We investigated 14 primary mtDNA mutations at nucleotide positions (nps 3460A, 4160C, 5244A, 9101C, 9804A, 10663C, 11778A, 13730A, 14459A, 14482G, 14484C, 14495G, 14498T, and 14568T) and one common secondary mutation (np15257A) in 82 Korean patients with suspected LHON. RESULTS: Among them, only three kinds of LHON mutations were identified in 60 (73%) of 82 probands, which were comprised of 46 (56%) cases with the 11778A, 13 (16%) with the 14484C, and 1 (1%) with the 3460A. None of the other mtDNA mutations was detected. Of the 60 probands with LHON positive mutations, 19 (32%) had relevant family histories. Heteroplasmy was determined in 2 (4%) of the 46 probands with the 11778A and 1 (8%) of 13 probands with the 14484C. CONCLUSIONS: In conclusion, the 11778A was the most common cause (56%), and higher prevalence of the 14484C and the lower prevalence of the 3460A were characteristic in Korean patients with LHON. Especially, the 3460A had a remarkable racial difference compared with Caucasians. Except 3460A, 11778A, and 14484C, the other mutations screened may not be involved in pathogenesis and not have a synergistic effect on the clinical expression of LHON in Koreans.
Key Words: Leber's hereditary optic neuropathy;Mitochondrial DNA;Mutation;Prevalence;Koreans


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