Publication: Mitochondrial DNA haplogroup distribution in pedigrees of Southeast Asian G11778A Leber hereditary optic neuropathy
Issued Date
2006-12-01
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10708022
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2-s2.0-33751266872
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Mahidol University
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SCOPUS
Bibliographic Citation
Journal of Neuro-Ophthalmology. Vol.26, No.4 (2006), 264-267
Suggested Citation
Pattamon Tharaphan, Wanicha L. Chuenkongkaew, Komon Luangtrakool, Thitima Sanpachudayan, Bhoom Suktitipat, Rungnapa Suphavilai, Chatchawan Srisawat, Thanyachai Sura, Patcharee Lertrit Mitochondrial DNA haplogroup distribution in pedigrees of Southeast Asian G11778A Leber hereditary optic neuropathy. Journal of Neuro-Ophthalmology. Vol.26, No.4 (2006), 264-267. doi:10.1097/01.wno.0000249318.88991.c4 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/23444
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Title
Mitochondrial DNA haplogroup distribution in pedigrees of Southeast Asian G11778A Leber hereditary optic neuropathy
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Abstract
To investigate the association of mitochondrial DNA (mtDNA) haplogroups and Leber hereditary optic neuropathy (LHON) in the Southeast Asian population, mtDNA haplogroup determination was performed by high-resolution restriction fragment length polymorphism in 42 patients with LHON who were carrying the G11778A mutation and in control subjects drawn from a Thai urban population unaffected by LHON. The patients with LHON were of Thai, Thai-Chinese, and Indian origin. Three mtDNA haplogroups, M, B*, and B, were found in LHON patients in a frequency similar to that in control subjects. mtDNA haplogroup F was found in none of the patients with LHON but was the second most common haplogroup in control subjects. The G11778A mutation must have arisen in our population independently from the mutation in Caucasians. In contrast to Caucasians, no specific mtDNA haplotype was associated with the patients with LHON in the Southeast Asian population. The mitochondrial polymorphisms that modify the expression of LHON in Southeast Asians could not be identified in this study. The lack of haplogroup F in our patients with LHON may indicate the protective effect of this haplogroup in the expression of this disorder. © 2006 Lippincott Williams & Wilkins, Inc.