[Genetic basis of hereditary optic atrophies].
The most common forms of optic atrophy are: autosomatic dominant optic atrophy (ADOA, Kjer type) and maternally-inherited Leber's hereditary optic neuropathy. Rare forms of hereditary optic neuropathies are: optic atrophy X-linked and autosomatic recessive form of optic atrophy. Autosomatic dominant optic atrophy (ADOA) is the most frequent hereditary optic neuropathy. Three loci have been reported for ADOA, a major locus maps to 3q28-q29 (OPA1). The majority of mutations responsible for autosomatic dominant optic atrophy are localized in OPA1 gene. Second locus is linked to 18q12.2-q12.3 (OPA4) and a third locus on 22q12.1-q13.1 (OPA5). This study presents the actual state of knowledge about molecular changes in different forms of optic atrophy and shows hypothesis indicating the significant participation of mitochondrial dysfunction in it's pathogenesis.
Wawrocka
Anna
A
Katedry i Zakładu Genetyki Medycznej Akademii Medycznej w Poznaniu.
Krawczyński
Maciej R
MR
D020558:GTP Phosphohydrolases / Q000378:metabolism*; D006801:Humans; D008928:Mitochondria / Q000235:genetics*; D029241:Optic Atrophy, Autosomal Dominant / Q000235:genetics*; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics*
D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human