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

Journal of Neurology, Neurosurgery, and Psychiatry
Manisha JunejaV Timmerman

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.

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Citations

Mar 8, 2019·Journal of the Peripheral Nervous System : JPNS·Stefano TozzaFiore Manganelli
Jun 23, 2019·Human Molecular Genetics·Bhavya RaviAndrew P Lieberman
Nov 11, 2019·Journal of the Peripheral Nervous System : JPNS·Fiore ManganelliLucio Santoro
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Methods Mentioned

BETA
transgenic
antisense oligonucleotide
biopsy
acetylation
biopsies
fluorescence-activated cell sorting
FACS

Software Mentioned

IPA (
Acceleron Pharma
Ingenuity Pathway Analysis

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