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Open Access 01-12-2020 | Original Article

Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation

Authors: Agnieszka Piotrowska-Nowak, Maciej R. Krawczyński, Ewa Kosior-Jarecka, Anna M. Ambroziak, Magdalena Korwin, Monika Ołdak, Katarzyna Tońska, Ewa Bartnik

Published in: Metabolic Brain Disease | Issue 8/2020

Abstract

Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder with symptoms limited to a single tissue, optic nerve, resulting in vision loss. In the majority of cases it is caused by one of three point mutations in mitochondrial DNA (mtDNA) but their presence is not sufficient for disease development, since ~50% of men and ~10% women who carry them are affected. Thus additional modifying factors must exist. In this study, we use next generation sequencing to investigate the role of whole mtDNA variation in male Polish patients with LHON and m.11778G > A, the most frequent LHON mutation. We present a possible association between mtDNA haplogroup K and variants in its background, a combination of m.3480A > G, m.9055G > A, m.11299 T > C and m.14167C > T, and LHON mutation. These variants may have a negative effect on m.11778G > A increasing its penetrance and the risk of LHON in the Polish population. Surprisingly, we did not observe associations previously reported for m.11778G > A and LHON in European populations, particularly for haplogroup J as a risk factor, implying that mtDNA variation is much more complex. Our results indicate possible contribution of novel combination of mtDNA genetic factors to the LHON phenotype.

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Title: Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation
Authors: Agnieszka Piotrowska-Nowak
Maciej R. Krawczyński
Ewa Kosior-Jarecka
Anna M. Ambroziak
Magdalena Korwin
Monika Ołdak
Katarzyna Tońska
Ewa Bartnik
Publication date: 01-12-2020
Publisher: Springer US
Published in: Metabolic Brain Disease / Issue 8/2020
Print ISSN: 0885-7490
Electronic ISSN: 1573-7365
DOI: https://doi.org/10.1007/s11011-020-00605-3

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Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation

Abstract

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

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