TY - JOUR
T1 - Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development
AU - Juneja, Manisha
AU - Burns, Joshua
AU - Saporta, Mario A.
AU - Timmerman, Vincent
N1 - Publisher Copyright:
© Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.
Copyright:
Copyright 2019 Elsevier B.V., All rights reserved.
PY - 2019/1/1
Y1 - 2019/1/1
N2 - 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.
AB - 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.
KW - HMSN (CHARCOT-MARIE-TOOTH)
KW - neuropathy
UR - http://www.scopus.com/inward/record.url?scp=85050134239&partnerID=8YFLogxK
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U2 - 10.1136/jnnp-2018-318834
DO - 10.1136/jnnp-2018-318834
M3 - Article
C2 - 30018047
AN - SCOPUS:85050134239
VL - 90
SP - 58
EP - 67
JO - Journal of Neurology, Neurosurgery and Psychiatry
JF - Journal of Neurology, Neurosurgery and Psychiatry
SN - 0022-3050
IS - 1
ER -