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2015, vol. 72, br. 10, str. 859-863
Povezanost broja kopija SMN2 gena i kliničkih karakteristika bolesnika sa spinalnom mišićnom atrofijom sa homozigotnom delecijom egzona 7 gena SMN1
aKlinički centar Vojvodine, Klinika za neurologiju, Novi Sad
bUniverzitet u Novom Sadu, Medicinski fakultet, Institut za zdravstvenu zaštitu dece i omladine
cKlinički centar Vojvodine, Centar za sudsku medicinu, toksikologiju i molekularnu genetiku, Novi Sad
dDepartment of Neurology, General Hospital, Subotica
eKlinički centar Srbije, Klinika za neurologiju, Beograd
fUniverzitet u Beogradu, Institut za biološka istraživanja 'Siniša Stanković'

e-adresazarkovns@gmail.com
Projekat:
Hungary-Serbia IPA Cross-Border Co-Operation Program: Research Cooperation to Improve Symptoms in Neurological Disorders, and Quality of Life of Patients. 2010-2012, Project ID: HUSRB/0901/214/052.

Sažetak
Uvod/Cilj. Spinalna mišićna atrofija (SMA) je autosomno recesivno oboljenje koje se karakteriše degeneracijom alfa motornih neurona kičmene moždine i produžene moždine, što uzrokuje progresivnu mišićnu slabost i atrofiju. Cilj rada bio je da se utvrdi povezanost broja kopija gena SMN2 i fenotipa kod srpske populacije bolesnika sa SMA sa homozigotnom delecijom egzona 7 gena SMN1. Metode. Podaci o bolesnicima sa SMA preuzeti su iz registara regionalnih bolnica u Srbiji. Ispitivane su sledeće kliničke karakteristike: pol bolesnika, uzrast pri pojavi bolesti, postignuti stepen motornog razvoja na početku bolesti i trenutno stanje, trajanje bolesti, sadašnji uzrast i prisustvo deformiteta kičme i kontrakture zglobova. Broj kopija gena SMN1 i SMN2 utvrđivan je pomoću lančane reakcije polimeraze (polymerase chain reaction - PCR) u realnom vremenu. Rezultati. Od 43 identifikovana bolesnika, 37 (86.0%) je imalo homozigotnu deleciju egzona 7 gena SMN1. Jedan (2.7%) od 37 bolesnika imao je SMA tipa I sa 3 kopije SMN2, 11 (29.7%) je imalo SMA tipa II sa 3.1 ± 0.7 kopija, 17 (45.9%) imalo je SMA tipa III sa 3.7 ± 0.9 kopija, dok je 8 (21.6%) bolesnika imalo SMA tipa IV sa 4.2 ± 0.9 kopija. Zabeležen je progresivan porast broja kopija gena SMN2 od tipa II ka tipu IV (p < 0.05). Veći broj kopija gena SMN2 bio je povezan sa boljim trenutnim motornim sposobnostima (p < 0.05). Zaključak. U srpskoj populaciji bolesnika sa SMA, veći broj kopija gena SMN2 koreliše sa blažim fenotipom bolesti. Pored toga, ne treba isključiti ni mogući uticaj drugih faktora koji mogu modifikovati fenotip.
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O članku

jezik rada: engleski
vrsta rada: izvorni naučni članak
DOI: 10.2298/vsp140328072z
objavljen u SCIndeksu: 06.11.2015.
metod recenzije: dvostruko anoniman

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