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A novel mtDNA ND6 gene mutation associated with LHON in a Caucasian family.

Authors: Zhadanov, SI  Atamanov, VV  Zhadanov, NI  Oleinikov, OV  Osipova, LP  Schurr, TG 
Citation: Zhadanov SI, etal., Biochem Biophys Res Commun. 2005 Jul 15;332(4):1115-21.
Pubmed: (View Article at PubMed) PMID:15922297
DOI: Full-text: DOI:10.1016/j.bbrc.2005.05.059

Leber's hereditary optic neuropathy (LHON) is a frequent cause of inherited blindness. A routine screening for common mtDNA mutations constitutes an important first in its diagnosis. However, a substantial number of LHON patients do not harbor known variants, both pointing to the genetic heterogeneity of LHON and bringing into question its genetic diagnosis. We report a familial case that exhibited typical features of LHON but lacked any of the common mutations. Genetic analysis revealed a novel pathogenic defect in the ND6 gene at 14279A that was not detected in any haplogroup-matched controls screened for it, nor has it been previously reported. This mutation causes a substantial conformational change in the secondary structure of the polypeptide matrix coil and may explain the LHON expression. Thus, it expands the spectrum of deleterious changes affecting ND6-encoding subunit and further highlights the functional significance of this gene, providing additional clues to the disease pathogenesis.


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CRRD Object Information
CRRD ID: 1581061
Created: 2006-09-13
Species: All species
Last Modified: 2006-09-13
Status: ACTIVE


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