Title:Limb-girdle Muscular Dystrophy and Therapy: Insights into Cell and Gene-based Approaches
Volume: 19
Issue: 6
Author(s): Forough Taheri, Eskandar Taghizadeh, Mohammad J.R. Pour, Daryoush Rostami, Pedram G. Renani, Azam Rastgar-Moghadam and Seyed M.G. Hayat*
Affiliation:
- Department of Medical Genetics, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd,Iran
Keywords:
Adeno-associated virus, exon skipping, gene therapy, limb-girdle muscular dystrophy, LGMD, gene editing.
Abstract: The Limb-Girdle Muscular Dystrophies (LGMD) are genetically heterogeneous disorders,
responsible for muscle wasting and severe form of dystrophies. Despite the critical developments in
the insight and information of pathomechanisms of limb-girdle muscular dystrophy, any definitive
treatments do not exist, and current strategies are only based on the improvement of the signs of disorder
and to enhance the life quality without resolving an underlying cause. There is a crucial relationship
between pharmacological therapy and different consequences; therefore, other treatment strategies
will be required. New approaches, such as gene replacement, gene transfer, exon skipping, siRNA
knockdown, and anti-myostatin therapy, which can target specific cellular or molecular mechanism of
LGMD, could be a promising avenue for the treatment. Recently, genome engineering strategies with
a focus on molecular tools such as CRISPR-Cas9 are used to different types of neuromuscular disorders
and show the highest potential for clinical translation of these therapies. Thus, recent advancements
and challenges in the field will be reviewed in this paper.
