Povezanost broja kopija SMN2 gena i kliničkih karakteristika bolesnika sa spinalnom mišićnom atrofijom sa homozigotnom delecijom egzona 7 gena SMN1

  • Marija Žarkov Neurology Clinic, Clinical Center of Vojvodina, Faculty of Medicine, University of Novi Sad, Novi Sad, Serbia
  • Aleksandra Stojadinović Child and Youth Health Care Institute of Vojvodina, Faculty of Medicine, University of Novi Sad, Novi Sad, Serbia
  • Slobodan Sekulić Neurology Clinic, Clinical Center of Vojvodina, Medical Faculty, University of Novi Sad, Novi Sad, Serbia
  • Iva Barjaktarović Center for Forensic Medicine, Toxicology and Molecular Genetics, Clinical Center of Vojvodina, Novi Sad, Serbia
  • Olivera Stojiljković Department of Neurology, General Hospital Subotica, Serbia
  • Stojan Perić Neurology Clinic, Clinical Center of Serbia, Medical Faculty, University of Belgrade, Belgrade, Serbia
  • Goran Keković Institute for Biological Research “Siniša Stanković”, University of Belgrade, Belgrade, Serbia
  • Biljana Drašković Child and Youth Health Care Institute of Vojvodina, Medical Faculty, University of Novi Sad, Novi Sad, Serbia
  • Zorica Stević Neurology Clinic, Clinical Center of Serbia, Medical Faculty, University of Belgrade, Belgrade, Serbia
DOI: https://doi.org/10.2298/5791
Ključne reči: muscular atrophy, spinal||, ||mišići, atrofija, spinalna, genetic diseases, inborn||, ||genetičke bolesti, urođene, chromosome aberations||, ||hromosomi, aberacije, serbia||, ||srbija,

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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Objavljeno
2015/11/02
Broj časopisa
Vol. 72 Br. 10 (2015)
Rubrika
Originalni članak