Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development

Manisha Juneja, Joshua Burns, Mario A. Saporta, Vincent Timmerman

Research output: Contribution to journalArticle

23 Scopus citations

Abstract

Much has been achieved in terms of understanding the complex clinical and genetic heterogeneity of Charcot-Marie-Tooth neuropathy (CMT). Since the identification of mutations in the first CMT associated gene, PMP22, the technological advancement in molecular genetics and gene technology has allowed scientists to generate diverse animal models expressing monogenetic mutations that closely resemble the CMT phenotype. Additionally, one can now culture patient-derived neurons in a dish using cellular reprogramming and differentiation techniques. Nevertheless, despite the fact that finding a disease-causing mutation offers a precise diagnosis, there is no cure for CMT at present. This review will shed light on the exciting advancement in CMT disease modelling, the breakthroughs, pitfalls, current challenges for scientists and key considerations to move the field forward towards successful therapies.

Original languageEnglish (US)
Pages (from-to)58-67
Number of pages10
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume90
Issue number1
DOIs
StatePublished - Jan 1 2019

Keywords

  • HMSN (CHARCOT-MARIE-TOOTH)
  • neuropathy

ASJC Scopus subject areas

  • Surgery
  • Clinical Neurology
  • Psychiatry and Mental health

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