期刊
MITOCHONDRION
卷 13, 期 6, 页码 721-728出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.mito.2013.02.003
关键词
MMND; Deafness; Mitochondria; mtDNA; tRNA; Haplogroup
资金
- Department of Biotechnology (DBT), Government of India
- Council of Scientific and Industrial Research (CSIR), Government of India
- ALS Therapy Alliance, Project ALS
- Angel Fund
- Pierre L de Bourgknecht ALS Research Foundation
- Al-Athel ALS Research Foundation
- NIH/NINDS [1R01NS050557]
Although the Madras motor neuron disease (MMND) was found three decades ago, its genetic basis has not been elucidated, so far. The symptom at onset was impaired hearing, upper limb weakness and atrophy. Since some clinical features of MMND overlap with mitochondrial disorders, we analyzed the complete mitochondrial genome of 45 MMND patients and found 396 variations, including 13 disease-associated, 2 mt-tRNA and 33 non-synonymous (16 MT-ND, 10 MT-CO, 3 MT-CYB and 4 MT-ATPase). A rare variant (m.8302A>G) in mt-tRNA(Leu) was found in three patients. We predict that these variation(s) may influence the disease pathogenesis along with some unknown factor(s). (C) 2013 Elsevier B.V. and Mitochondria Research Society. All rights reserved.
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