https://jnnp.bmj.com/content/90/1/58
https://www.ncbi.nlm.nih.gov/pubmed/30018047
Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development.
J Neurol Neurosurg Psychiatry. 2019 Jan;90(1):58-67. doi: 10.1136/jnnp-2018-318834. Epub 2018 Jul 17.
Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development.
Juneja M1,2, Burns J3, Saporta MA4, Timmerman V5,2.
Author information
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.
KEYWORDS:
HMSN (CHARCOT-MARIE-TOOTH); neuropathy
PMID: 30018047 DOI: 10.1136/jnnp-2018-318834
