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NR 10-12/2007
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Podłoże genetyczne
dziedzicznych zaników nerwów wzrokowych
Genetic basis of hereditary
optic atrophies
Anna Wawrocka, Maciej R. Krawczyński
Z Katedry i Zakładu Genetyki Medycznej Akademii Medycznej w
Poznaniu
Kierownik: prof. dr hab. med. Anna Latos-Bieleńska |
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| Summary: |
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. |
| Słowa kluczowe: |
dziedziczne zaniki nerwów
wzrokowych, autosomalny dominujący zanik nerwów
wzrokowych typu Kjera (ADOA), genetyka, gen OPA1. |
| Key words: |
hereditary optic
neuropathies, autosomatic dominant optic atrophy Kjer
type (ADOA), genetics, OPA1 gene. |
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