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Mitochondrion. 2013 Nov;13(6):721-8. doi: 10.1016/j.mito.2013.02.003. Epub 2013 Feb 16.

Mitochondrial DNA variations in Madras motor neuron disease.

Author information

1
CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India.

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-tRNA(Leu) was found in three patients. We predict that these variation(s) may influence the disease pathogenesis along with some unknown factor(s).

KEYWORDS:

Deafness; Haplogroup; MMND; Mitochondria; mtDNA; tRNA

PMID:
23419391
PMCID:
PMC4805120
DOI:
10.1016/j.mito.2013.02.003
[Indexed for MEDLINE]
Free PMC Article
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