title: Mitochondrial DNA variations in Madras motor neuron disease.
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).
authors: CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India.
authors: Periyasamy
authors: P
authors: Govindaraj
authors: Atchayaram
authors: A
authors: Nalini
authors: Nithin
authors: N
authors: Krishna
authors: Anugula
authors: A
authors: Sharath
authors: Nahid Akhtar
authors: NA
authors: Khan
authors: Rakesh
authors: R
authors: Tamang
authors: M
authors: M
authors: Gourie-Devi
authors: Robert H
authors: RH
authors: Brown
authors: Kumarasamy
authors: K
authors: Thangaraj
mesh_terms: D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D016472:Motor Neuron Disease / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D004272:DNA, Mitochondrial
keywords: Deafness; Haplogroup; MMND; Mitochondria; mtDNA; tRNA