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The m.13051G > A mitochondrial DNA mutation results in variable neurology and activated mitophagy

Dombi, E, Diot, A, Morten, K, Carver, J, Lodge, T, Fratter, C, Ng, YS, Liao, C, Muir, R, Blakely, EL, Hargreaves, IP, Al-Dosary, M, Sarkar, G, Hickman, SJ, Downes, SM, Jayawant, S, Yu-Wai-Man, P, Taylor, RW and Poulton, J (2016) The m.13051G > A mitochondrial DNA mutation results in variable neurology and activated mitophagy. Neurology, 86 (20). pp. 1921-1923. ISSN 0028-3878

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Maternally inherited mitochondrial DNA (mtDNA) mutations cause symptoms of Leber hereditary optic neuropathy (LHON) in ;1 in 30,000 individuals. Most of the affected individuals lack respiratory chain defects1 and there is no proven prophylactic treatment. We identified 2 families (figure 1A) and 1 singleton case (appendix e-1 on the Neurology® Web site at Neurology.org) harboring the m.13051G.A pathogenic mtDNA mutation.2 This mutation was homoplasmic (figure e-1) but no respiratory chain defect was apparent in skeletal muscle (figure e-2, table e-1). Three children were severely affected by lactic acidosis: 2 with Leigh syndrome (patients 1 and 2; figure 1B) and 1 with a Leigh-like phenotype (patient 5). Previous authors have shown that mtDNA and mitochondrial mass are increased in individuals harboring LHON mutations.3 They suggested that an upregulation of mitochondrial biogenesis is protective, as the highest mitochondrial content was found in symptom-free carriers.3 We believe this increase in biogenesis reflects heightened mitochondrial turnover and therefore investigated mitophagy, a cellular mechanism whereby redundant or dysfunctional mitochondria are recycled.

Item Type: Article
Uncontrolled Keywords: 1103 Clinical Sciences, 1109 Neurosciences, 1702 Cognitive Sciences
Subjects: Q Science > QD Chemistry
Q Science > QH Natural history > QH301 Biology
Q Science > QH Natural history > QH426 Genetics
R Medicine > RM Therapeutics. Pharmacology
Divisions: Pharmacy & Biomolecular Sciences
Publisher: American Academy of Neurology
Related URLs:
Date Deposited: 22 Sep 2020 09:59
Last Modified: 04 Sep 2021 06:39
DOI or ID number: 10.1212/WNL.0000000000002688
URI: https://researchonline.ljmu.ac.uk/id/eprint/13682
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