Journal
MITOCHONDRION
Volume 9, Issue 4, Pages 273-278Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.mito.2009.04.003
Keywords
LHON; Mitochondrial DNA; T14484C; Penetrance; Haplogroup
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Funding
- National Infrastructure Program of Chinese Genetic Resources [2006DKA21301]
- National Basic Research Program of China [2007CB511905]
- National Natural science Foundation of China [30872843]
- Natural Science Foundation of Fujian Province [C0520003, C0810018]
- Special Invention Foundation of Fujian Province
- Youth Science & Technology Talent Innovation Program of Fujian Province [2004J044]
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We report the clinical and genetic characterization of a Chinese Leber's hereditary optic neuropathy (LHON) family with complete penetrance and high percentage of recovery. Sequence analysis of the complete mitochondrial DNA revealed the presence of heteroplasmic ND6/T14484C mutation and 27 other variants, belonging to the East-Asian haplogroup B4b'd. Of those variants, a novel homoplasmic G10680A mutation substituted a threonine for a highly conserved alanine at ND4L amino acid 7 1, which was not found in unaffected family members and 100 normal controls. It indicated that G10680A may play a synergistic role with the primary mutation T14484C, leading to the complete penetrance of LHON in the presenting family. In addition, the other modifier factors including nuclear background, mitochondrial haplotypes and other environmental factors should account for the phenotypic variability of visual impairment in this family. (C) 2009 Elsevier B.V. on behalf of Mitochondria Research Society. All rights reserved.
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