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Your search keyword '"Sergey I. Zhadanov"' showing total 3 results
Start Over Author "Sergey I. Zhadanov" Publisher elsevier bv
3 results on '"Sergey I. Zhadanov"'

2. Fatal manifestation of a de novo ND5 mutation: Insights into the pathogenetic mechanisms of mtDNA ND5 gene defects

Author

Vladislava Gusar, Sophie Lebon, Natalya P. Fedoseeva, Yulia Grechanina, Sergey I. Zhadanov, Alfred Münnich, Theodore G. Schurr, and Elena Grechanina

Subjects
Mitochondrial DNA, Mitochondrial Diseases, Biology, DNA, Mitochondrial, Conserved sequence, Mitochondrial Proteins, Phylogenetics, Animals, Humans, Amino Acid Sequence, RNA, Messenger, Child, Molecular Biology, Gene, Conserved Sequence, Phylogeny, Genetics, Electron Transport Complex I, Base Sequence, Molecular Structure, Cell Biology, Phenotype, Heteroplasmy, Transmembrane domain, Mutation, Mutation (genetic algorithm), Molecular Medicine, Female, Sequence Alignment
Abstract

We report the de novo occurrence of a heteroplasmic 12706T-->C (12705C) ND5 mutation associated with the clinical expression of fatal Leigh syndrome. Phylogenetic analysis of several cases having the 12706C mutation confirmed that this mutation occurred independently in distinctive mtDNA backgrounds. In each of these cases, the low level of heteroplasmy and the association of the mutation with a deleterious phenotype indicated that the 12706C had a primary role in the expression of LS/MELAS in its carriers. Secondary structure analysis of the ND5 protein further supported the deleterious role of the 12706C mutation, as it was found to affect a functionally significant transmembrane domain that is likely responsible for the proton-translocation function of complex I.

Published
2007
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