Abstrakt

DOPA-dekarboksylaza jest jednym z istotnych elementów układu dopaminergicznego mózgu oraz sytemu wychwytu i dekarboksylacji prekursorów amin w tkankach obwodowych. Oprócz amin katecholowych, enzym DDC odpowiada za biogenezę serotoniny oraz amin śladowych. Sekwencja aminokwasowa DDC jest zachowywana w toku ewolucji. Aktywność funkcjonalnej cząsteczki enzymu jest regulowana przez stymulację/hamowanie wielu typów receptorów błonowych, fosforylację reszt serynowych oraz bezpośrednie interakcje DDC z białkami regulatorowymi. Jednokopiowy gen DDC jest matrycą dla izoform mRNA różniących się sekwencją 5’ UTR, a także obecnością alternatywnych eksonów. Swoista tkankowo ekspresja genu DDC jest kontrolowana przez dwie sekwencje promotorowe – obwodową i neuronalną, które pozostają w przestrzennym oddaleniu od siebie. Mapowanie miejsc regulatorowych w promotorze neuronalnym wykazało, że jest wiązany przez białka z rodziny POU i HNF. Ze względu na położenie genu DDC w konserwowanym ewolucyjnie obszarze częściowo podlegającemu piętnowaniu rodzicielskiemu, sugeruje się zaangażowanie mechanizmów epigenetycznych w regulację ekspresji DDC. Nieprawidłowe funkcjonowanie lub niedobór tego białka wywołuje dysfunkcję układu nerwowego, zaburzenia psychiczne oraz koreluje z procesem nowotworzenia. Oprócz wymienionych problemów, w pracy zwrócono uwagę na rolę DDC w etiologii chorób gruczołu krokowego, afektywnej dwubiegunowej, Parkinsona oraz niedoboru DDC. Omówiono również nowoczesne i perspektywiczne metody kuracji chorych oparte na terapii genowej oraz wykorzystujące komórki macierzyste.

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