Gene therapies for axonal neuropathies: Available strategies, successes to date, and what to target next.

ABSTRACT: Nearly one-hundred loci in the human genome have been associated with different forms of Charcot-Marie-Tooth disease (CMT) and related inherited neuropathies. Despite this wealth of gene targets, treatment options are still extremely limited, and clear "druggable" pathways are not obvious for many of these mutations. However, recent advances in gene therapies are beginning to circumvent this challenge. Each type of CMT is a monogenic disorder, and the cellular targets are usually well-defined and typically include peripheral neurons or Schwann cells. In addition, the genetic mechanism is often also clear, with loss-of-function mutations requiring restoration of gene expression, and gain-of-function or dominant-negative mutations requiring silencing of the mutant allele. These factors combi

SUBMITTER: Morelli KH 

PROVIDER: S-EPMC7060803 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature