Article
OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background.
BMC medical genetics - 20 Jul 2009
Pierron Denis, Ferré Marc, Rocher Christophe, Chevrollier Arnaud, Murail Pascal, Thoraval Didier, Amati-Bonneau Patrizia, Reynier Pascal, Letellier Thierry
Abstract excerpt
BACKGROUND: Leber's hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (ADOA) are the most frequent forms of hereditary optic neuropathies. LHON is associated with mitochondrial DNA (mtDNA) mutations whereas ADOA is mainly due to mutations in the OPA1 gene that encodes a mitochondrial protein involved in the mitochondrial inner membrane remodeling. A striking influence of mtDNA haplogroup J...
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