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: Periyasamy Govindaraj, Atchayaram Nalini, Nithin Krishna, Anugula Sharath, Nahid Akhtar Khan, Rakesh Tamang, M Gourie-Devi, Robert H Brown, Kumarasamy Thangaraj
• Journal: Mitochondrion (Mitochondrion) Vol. 13 Issue 6 Pg. 721-8 (Nov 2013) ISSN: 1872-8278 [Electronic] Netherlands
• PMID: 23419391 (Publication Type: Journal Article)
• Copyright: Copyright © 2013 Elsevier B.V. and Mitochondria Research Society. All rights reserved. All rights reserved.

Chemical References

• DNA, Mitochondrial

Topics

• Adult
• DNA, Mitochondrial (genetics)
• Female
• Humans
• Male
• Motor Neuron Disease (genetics)
• Polymerase Chain Reaction
• Polymorphism, Restriction Fragment Length