Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy
- Shankar, Suma P.
- Fingert, John H.
- Carelli, Valerio
- Valentino, Maria L.
- King, Terri M.
- Daiger, Stephen P.
- Salomão, Solange Rios
- Berezovsky, Adriana
- Belfort, Rubens
- Braun, Terri A.
- Sheffield, Val C.
- Sadun, Alfredo A.
- Stone, Edwin M.
DOIAbstract
Leber Hereditary Optic Neuropathy (LHON) is a maternally inherited blinding disease caused by missense mutations in the mitochondrial DNA (mtDNA). However, incomplete penetrance and a predominance of male patients presenting with vision loss suggest that modifying factors play an important role in the development of the disease. Evidence from several studies suggests that both nuclear modifier genes and environmental factors may be necessary to trigger the optic neuropathy in individuals harboring an LHON-causing mtDNA mutation. Recently, an optic neuropathy susceptibility locus at Xp21-Xq21 has been reported. in this study, we performed X-chromosomal linkage analysis in a large Brazilian family harboring a homoplasmic G11778A mtDNA mutatio...
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