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Open AccessArticle

Mitochondrial DNA Variation of Leber’s Hereditary Optic Neuropathy in Western Siberia

Laboratory of Human Molecular Genetics, Institute of Molecular and Cellular Biology, SBRAS, Novosibirsk 630090, Russia
Department of Pediatrics, University of Alberta, Edmonton, AB T6G 2R3, Canada
Novosibirsk Branch of S.N. Fedorov NMRC “MNTK Eye Microsurgery”, Moscow 127486, Russia
Center of Life Sciences, Skolkovo Institute of Science and Technology, Skolkovo 121205, Russia
Authors to whom correspondence should be addressed.
Cells 2019, 8(12), 1574;
Received: 23 October 2019 / Revised: 30 November 2019 / Accepted: 2 December 2019 / Published: 4 December 2019
(This article belongs to the Special Issue Mitochondria in Health and Diseases)
Our data first represent the variety of Leber’s hereditary optic neuropathy (LHON) mutations in Western Siberia. LHON is a disorder caused by pathogenic mutations in the mitochondrial DNA (mtDNA), inherited maternally and presents mainly in young adults, predominantly males. Clinically, LHON manifests itself as painless central vision loss, resulting in early onset of disability. The epidemiology of LHON has not been fully investigated yet. In this study, we report 44 genetically unrelated families with LHON manifestation. We performed whole mtDNA genome sequencing and provided genealogical and molecular genetic data on mutations and haplogroup background of LHON patients. Known “primary” pathogenic mtDNA mutations (MITOMAP) were found in 32 families: m.11778G>A represents 53.10% (17/32), m.3460G>A—21.90% (7/32), m.14484T>C–18.75% (6/32), and rare m.10663T>C and m.3635G>A represent 6.25% (2/32). We describe potentially pathogenic m.4659G>A in one subject without known pathogenic mutations, and potentially pathogenic m.6261G>A, m.8412T>C, m.8551T>C, m.9444C>T, m.9921G>A, and m.15077G>A in families with known pathogenic mutations confirmed. We suppose these mutations could contribute to the pathogenesis of optic neuropathy development. Our results indicate that haplogroup affiliation and mutational spectrum of the Western Siberian LHON cohort substantially deviate from those of European populations. View Full-Text
Keywords: LHON; Siberian population; ancient mutation; specific genetic background LHON; Siberian population; ancient mutation; specific genetic background
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Starikovskaya, E.; Shalaurova, S.; Dryomov, S.; Nazhmidenova, A.; Volodko, N.; Bychkov, I.; Mazunin, I.; Sukernik, R. Mitochondrial DNA Variation of Leber’s Hereditary Optic Neuropathy in Western Siberia. Cells 2019, 8, 1574.

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