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Review Article

Exp Neurobiol 2020; 29(3): 177-188

Published online June 30, 2020

© The Korean Society for Brain and Neural Sciences

Gene Therapy Options as New Treatment for Inherited Peripheral Neuropathy

Rajarathinam Thenmozhi1, Ji-Su Lee2,3, Na Young Park1, Byung-Ok Choi2,3,4* and Young Bin Hong1*

1Department of Biochemistry, College of Medicine, Dong-A University, Busan 49201, 2Stem Cell & Regenerative Medicne Institute, Samsung Medical Center, Seoul 06351, 3Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, 4Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul 06351, Korea

Correspondence to: *To whom correspondence should be addressed.
Young Bin Hong, TEL: 82-51-240-2762, FAX: 82-51-240-2971
Byung-Ok Choi, TEL: 82-2-3410-1296, FAX: 82-2-3410-0052

Received: February 1, 2020; Revised: April 21, 2020; Accepted: May 11, 2020

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Inherited peripheral neuropathy (IPN) is caused by heterogeneous genetic mutations in more than 100 genes. So far, several treatment options for IPN have been developed and clinically evaluated using small molecules. However, gene therapy-based therapeutic strategies have not been aggressively investigated, likely due to the complexities of inheritance in IPN. Indeed, because the majority of the causative mutations of IPN lead to gainof- function rather than loss-of-function, developing a therapeutic strategy is more difficult, especially considering gene therapy for genetic diseases began with the simple idea of replacing a defective gene with a functional copy. Recent advances in gene manipulation technology have brought novel approaches to gene therapy and its clinical application for IPN treatment. For example, in addition to the classically used gene replacement for mutant genes in recessively inherited IPN, other techniques including gene addition to modify the disease phenotype, modulations of target gene expression, and techniques to edit mutant genes have been developed and evaluated as potent therapeutic strategies for dominantly inherited IPN. In this review, the current status of gene therapy for IPN and future perspectives will be discussed.

Graphical Abstract

Keywords: Inherited peripheral neuropathy, Gene therapy, Antisense oligonucleotide, miRNA, Gene editing