Publication in Mitochondrion (IF 3,5; Q2) proved three pathogenic mtDNA substitutions in Leber’s optic neuropathy

Mitochondrion (IF 3,5; Q2) published an article by the FSBI RCMG Hereditary Metabolic Diseases Laboratory researchers (the Lab Head is E.Yu. Zakharova, Doctor of medical science):

Three rare pathogenic mtDNA substitutions in LHON patients with low heteroplasmy.

Tatiana D.Krylova, Natalia L.Sheremet, Vyacheslav Yu. Tabakov, Konstantin G.Lyamzaev, Yulia S.Itkis, Polina G.Tsygankova, Natalia A.Andreeva, Maria S.Shmelkova, Tatiana A.Nevinitsyna, Vitaly V.Kadyshev, Ekaterina Yu.Zakharova.

Leber's hereditary optic neuropathy is a rare hereditary disease that generally affects men, characterized by acute or subacute vision loss. In the majority of patients, the disease is caused by mtDNA mutations found in their hopoplasmic condition (all copies of mtDNA are affected).

In this article published in Mitochondrion journal, the HMD laboratory researchers in collaboration with Moscow State University and the Rossolimo Institute of Eye Diseases examined three rare mitochondrial DNA mutations detected in a low degree of heteroplasmy by a new generation sequencing method in patients with Leber hereditary optical neuropathy. The analysis of the respiratory chain function, measurement of reactive oxygen species, genealogical analysis, as well as a database analysis showed that even a small content of mutant copies of mitochondrial DNA could cause serious cell dysfunction and optical neuropathy development.

Mitochondrion 50(2020) 139-144. doi.org/10.1016/j.mito.2019.10.002