Next Article in Journal
Ubiquitin-Like Post-Translational Modifications (Ubl-PTMs): Small Peptides with Huge Impact in Liver Fibrosis
Previous Article in Journal
MicroRNAs as Prognostic Markers in Acute Coronary Syndrome Patients—A Systematic Review
Previous Article in Special Issue
Advanced Age Is Associated with Iron Dyshomeostasis and Mitochondrial DNA Damage in Human Skeletal Muscle
Open AccessArticle

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

1
Laboratory of Human Molecular Genetics, Institute of Molecular and Cellular Biology, SBRAS, Novosibirsk, Russia
2
University of Alberta, Edmonton, AB, Canada
3
Novosibirsk branch of S.N. Fedorov NMRC "MNTK Eye Microsurgery", Novosibirsk, Russia
4
Center of Life Sciences, Skolkovo Institute of Science and Technology, Skolkovo, Russia
*
Authors to whom correspondence should be addressed.
Cells 2019, 8(12), 1574; https://doi.org/10.3390/cells8121574
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 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.
Keywords: LHON; Siberian population; ancient mutation; specific genetic background LHON; Siberian population; ancient mutation; specific genetic background
MDPI and ACS Style

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.

Show more citation formats Show less citations formats
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

1
Back to TopTop