GENOTIPSKE, FENOTPISKE I BIOHEMIJSKE KARAKTERISTIKE LEBEROVE HEREDITARNE OPTIČKE NEUROPATIJE
Sažetak
Leberova hereditarna optička neuropatija (LHON) je mitohondrijsko neurodegenerativno oboljenje koje se prezentuje kao bezbolni, akutni ili subakutni gubitak centralnog vida. Drugo oko obično biva zahvaćeno za nekoliko nedelja ili meseci (u proseku za 6 do 8 nedelja), dok je u oko 25% slučajeva oboljenje simultano bilateralno. Iako su opisani pojedinačni unilateralni slučajevi, kod 97% obolelih unutar godinu dana su oba oka zahvaćena. Detaljna genetska analiza je neophodna u procesu dijagnostikovanja LHON. Između 75 - 90% svih LHON slučajeva se dešava zbog jedne od tri mutacije u mitohondrijskoj DNK (mtDNK) koje su locirane na nukleotidima 11778, 14484 i 3460, mada i takozvane retke mutacije mogu da prouzrokuju nastanak LHON-a. Retke mutacije javljaju se u okviru pojedinih familija i uglavnom su heteroplazmične. U skorije vreme opisan je i takozvani autozomno recesivni LHON koji nastaje kao posledica mutacije u DNAJC30 genu sa identičnim osobinama, ali boljom prognozom u odnosu na mtLHON.
Cilj ovog mini revijskog rada je da prezentuje relevantne fenotipske, genotipske i biohemijske karakteristike LHON-a.
Reference
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