IJCNMH ARCpublishing

Issue: Issue 3 (2016) – Supplement 1

Review Article

Current targeted therapeutic strategies for oculopharyngeal muscular dystrophy: from pharmacological to RNA replacement and gene editing therapies

Aida Abu-Baker, Nawwaf Kharma, Christian Neri, Sarah Rasheed, Patrick A. Dion, Luc Varin, and Guy A. Rouleau
Oculopharyngeal muscular dystrophy (OPMD) is a midlife onset hereditary disease affecting skeletal muscles. It is characterized by progressive eyelid drooping, swallowing difficulties and proximal limb weakness. The distinct pathological hallmark of OPMD is the presence of filamentous intranuclear inclusions (INI) in patient's skeletal muscle cells. OPMD is caused by a mutation in the poly (A) binding protein nuclear 1 protein (PABPN1) gene, located on chromosome 14q. The normal PABPN1 gene has a (GCG)6 repeat encoding a polyalanine stretch at the 5’ end, while in OPMD patients this repeat is expanded to (GCG)8-13. Currently there is no effective treatment for OPMD. In this review, we discuss our current treatment strategies for OPMD. We present three experimental therapeutic approaches: pharmacological, RNA replacement, and gene editing. Our scientific findings could ultimately lead to an effective therapy for OPMD patients. 

Keywords: Oculopharyngeal muscular dystrophy, Pharmacological treatment, RNA replacement therapy, Gene editing, Polyalanine disorders, Protein aggregation, PABPN1

Special Issue on Controversies in Neurology. From the 10th World Congress on Controversies in Neurology (CONy), Lisbon, Portugal. 17–20 March 2016.

International Journal of Clinical Neurosciences and Mental Health 2016; 3(Suppl. 1):S06 
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