Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia
| Autor: | Jun Goto, Kang Wang, Jin-Ning Lou, Shoji Tsuji, Yuji Takahashi, Zong-Liang Gao, Xian-Wen Chen, Guo-Xiang Wang |
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| Rok vydání: | 2009 |
| Předmět: |
Adult
Male Mitochondrial DNA Adolescent DNA Mutational Analysis Molecular Sequence Data Optic Atrophy Hereditary Leber Mitochondrion Biology Eye Haplogroup Young Adult Cellular and Molecular Neuroscience Asian People Genetics medicine Animals Humans Point Mutation Amino Acid Sequence Child Genetics (clinical) Aged Dystonia Homoplasmy Electron Transport Complex I Polymorphism Genetic Base Sequence Point mutation Brain medicine.disease eye diseases Heteroplasmy Pedigree Genes Mitochondrial Child Preschool Mutation (genetic algorithm) Female Leigh Disease |
| Zdroj: | neurogenetics. 10:337-345 |
| ISSN: | 1364-6753 1364-6745 |
| Popis: | Leber hereditary optic neuropathy and dystonia (LDYT) is a mitochondrial disorder associated with variable combinations of vision loss and progressive generalized dystonia. LDYT is a unique oxidative phosphorylation disorder caused by mutations in mitochondrial ND6 or ND4 gene. In this paper, we describe a Chinese family with 18 LDYT patients. The comprehensive nucleotide sequence analysis of the entire mitochondrial genome using resequencing microarray revealed a mutation (mtND3*10197A (m.10197G>A)) substituting a threonine for a highly conserved alanine at codon 47 of MTND3 on the background of haplogroup D4b. Quantitative analysis of the heteroplasmy of the mutation revealed a homoplasmy in the leukocytes of all the affected individuals on the maternal side. This is the first description of the ND3 mutation causing LDYT. The mtND3*10197A (m.10197G>A) mutation has recently been described in French and Korean patients with Leigh syndrome. These findings suggest that the clinical presentations associated with the mtND3*10197A (m.10197G>A) mutation (ND3) are much wider, encompassing those of LDYT and Leigh syndrome. |
| Databáze: | OpenAIRE |
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