RT Journal Article
T1 Gene Therapy: A Promising Approach to Treating Spinal Muscular Atrophy
A1 Mulcahy, Pádraig J.
A1 Iremonger, Kayleigh
A1 Karyka, Evangelia
A1 Herranz Martín, Saúl
A1 Shum, Ka-To
A1 Van Tam, Janice Kal
A1 Azzouz, Mimoun
AB Spinal muscular atrophy (SMA) is a severe autosomal recessive disease caused by a genetic defect in the survival motor neuron 1 (SMN1) gene, which encodes SMN, a protein widely expressed in all eukaryotic cells. Depletion of the SMN protein causes muscle weakness and progressive loss of movement in SMA patients. The field of gene therapy has made major advances over the past decade, and gene delivery to the central nervous system (CNS) by in vivo or ex vivo techniques is a rapidly emerging field in neuroscience. Despite Parkinson's disease, Alzheimer's disease, and amyotrophic lateral sclerosis being among the most common neurodegenerative diseases in humans and attractive targets for treatment development, their multifactorial origin and complicated genetics make them less amenable to gene therapy. Monogenic disorders resulting from modifications in a single gene, such as SMA, prove more favorable and have been at the fore of this evolution of potential gene therapies, and results to date have been promising at least. With the estimated number of monogenic diseases standing in the thousands, elucidating a therapeutic target for one could have major implications for many more. Recent progress has brought about the commercialization of the first gene therapies for diseases, such as pancreatitis in the form of Glybera, with the potential for other monogenic disease therapies to follow suit. While much research has been carried out, there are many limiting factors that can halt or impede translation of therapies from the bench to the clinic. This review will look at both recent advances and encountered impediments in terms of SMA and endeavor to highlight the promising results that may be applicable to various associated diseases and also discuss the potential to overcome present limitations.
PB Mary Ann Liebert
SN 1043-0342
SN 1557-7422
YR 2014
FD 2014-05-19
LK https://hdl.handle.net/20.500.14352/96282
UL https://hdl.handle.net/20.500.14352/96282
LA eng
NO Pádraig J. Mulcahy, Kayleigh Iremonger, Evangelia Karyka, Saúl Herranz-Martín, Ka-To Shum, Janice Kal Van Tam, and Mimoun Azzouz. Gene Therapy: A Promising Approach to Treating Spinal Muscular Atrophy. Human Gene Therapy.Jul 2014.575-586.http://doi.org/10.1089/hum.2013.186
DS Docta Complutense
RD 21 abr 2025