Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2001-07

AUTHORS

Michael D. Brown, Sergei Zhadanov, Jon C. Allen, Seyed Hosseini, Nancy J. Newman, Vasily V. Atamonov, Irina E. Mikhailovskaya, Rem I. Sukernik, Douglas C. Wallace

ABSTRACT

Leber's hereditary optic neuropathy (LHON) is characterized by maternally transmitted, bilateral, central vision loss in young adults. It is caused by mutations in the mitochondrial DNA (mtDNA) encoded genes that contribute polypeptides to NADH dehydrogenase or complex I. Four mtDNA variants, the nucleotide pair (np) 3460A, 11778A, 14484C, and 14459A mutations, are known as "primary" LHON mutations and are found in most, but not all, of the LHON families reported to date. Here, we report the extensive genetic and biochemical analysis of five Russian families from the Novosibirsk region of Siberia manifesting maternally transmitted optic atrophy consistent with LHON. Three of the five families harbor known LHON primary mutations. Complete sequence analysis of proband mtDNA in the other two families has revealed novel complex I mutations at nps 3635A and 4640C, respectively. These mutations are homoplasmic and have not been reported in the literature. Biochemical analysis of complex I in patient lymphoblasts and transmitochondrial cybrids demonstrated a respiration defect with complex-I-linked substrates, although the specific activity of complex I was not reduced. Overall, our data suggests that the spectrum of mtDNA mutations associated with LHON in Russia is similar to that in Europe and North America and that the np 3635A and 4640C mutations may be additional mtDNA complex I mutations contributing to LHON expression. More... »

PAGES

33-39

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s004390100538

DOI

http://dx.doi.org/10.1007/s004390100538

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1006282361

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/11479733


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