Naslov
Treatment strategies for spinal muscular atrophy

Autori
Fuller, Heidi ; Barišić, Marija ; Šešo-Šimić, Đurđica ; Špeljko, Tea ; Morris, Glenn E. ; Šimić, Goran

Izvornik
Translational Neuroscience (2081-3856) 1 (2010), 4; 308-321

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, pregledni rad, znanstveni

Ključne riječi
clinical trials ; spinal muscular atrophy ; SMN1 gene ; SMN2 gene ; SMN protein ; treatment ; therapy

Sažetak
Progress in understanding the genetic basis and pathophysiology of spinal muscular atrophy (SMA), along with continuous efforts in finding a way to increase survival motor neuron (SMN) protein levels have resulted in several strategies that have been proposed as potential directions for efficient drug development. Here we provide an overview on the current status of the following approaches: 1) activation of SMN2 gene and increasing full length SMN2 transcript level, 2) modulating SMN2 splicing, 3) stabilizing SMN mRNA and SMN protein, 4) development of neurotrophic, neuroprotective and anabolic compounds and 5) stem cell and gene therapy. The new preclinical advances warrant a cautious optimism for emergence of an effective treatment in the very near future.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti, Psihologija

POVEZANOST RADA