A Review of Genetic Etiology and Emerging Molecular Therapies for FSHD in Preclinical Studies

Document Type : Review

Authors

1 Department of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

2 1.Department of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. 2. Students Research Committee, Baqiyatalahl University of Medical Sciences, Tehran, Iran. 3.Blood Borne Infections Research Center, Academic Center for Education, Culture and Research (ACECR)- Khorasan Razavi, Mashhad, Iran.

3 Department of Neurology, Mashhad University of Medical Sciences, Mashhad, Iran.

4 1.Department of Neurology, Mashhad University of Medical Sciences, Mashhad, Iran. 2.Stem Cells and Regeneratiive Medicine Department, Academic Center for Education, Culture and Research (ACECR)- Khorasan Razavi, Mashhad, Iran

5 1.Department of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. 2. Department of Neurology, Mashhad University of Medical Sciences, Mashhad, Iran

Abstract

Facioscapulohumeral muscular dystrophy is one of the most common musculoskeletal diseases with a considerable burden. Most of the affected individuals experience muscle weakness as the common muscular symptom. Despite the underlying genetic mechanism which is extensively studied, curative treatment is not available for patients with facioscapulohumeral muscular dystrophy, and only supportive care is considered as the treatment of choice. Recently, several studies addressed the treatment of facioscapulohumeral muscular dystrophy by genetic engineering strategies, most of which indicate the effectiveness of different types of small interfering ribonucleic acids. However, these studies are still in the preclinical phase and it seems that there is a long way ahead of curing facioscapulohumeral muscular dystrophy despite recent advances in the field of genetic engineering. This study aimed to review the underlying genetic mechanism of Facioscapulohumeral muscular dystrophy alongside providing the latest preclinical studies related to the treatment of this disease. 

Keywords