Govindaraj, Periyasamy ; Nalini, Atchayaram ; Krishna, Nithin ; Sharath, Anugula ; Khan, Nahid Akhtar ; Tamang, Rakesh ; Gourie-Devi, M. ; Brown, Robert H. ; Thangaraj, Kumarasamy (2013) Mitochondrial DNA variations in Madras motor neuron disease Mitochondrion, 13 (6). pp. 721-728. ISSN 1567-7249
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Official URL: http://www.sciencedirect.com/science/article/pii/S...
Related URL: http://dx.doi.org/10.1016/j.mito.2013.02.003
Abstract
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-tRNALeu was found in three patients. We predict that these variation(s) may influence the disease pathogenesis along with some unknown factor(s).
| Item Type: | Article |
|---|---|
| Source: | Copyright of this article belongs to Elsevier Science. |
| Keywords: | MMND; Deafness; Mitochondria; mtDNA; tRNA; Haplogroup |
| ID Code: | 107757 |
| Deposited On: | 14 Jul 2017 11:50 |
| Last Modified: | 14 Jul 2017 11:50 |
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