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

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...

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Autores principales: Juneja, Manisha, Burns, Joshua, Saporta, Mario A, Timmerman, Vincent
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327864/
https://www.ncbi.nlm.nih.gov/pubmed/30018047
http://dx.doi.org/10.1136/jnnp-2018-318834
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author Juneja, Manisha
Burns, Joshua
Saporta, Mario A
Timmerman, Vincent
author_facet Juneja, Manisha
Burns, Joshua
Saporta, Mario A
Timmerman, Vincent
author_sort Juneja, Manisha
collection PubMed
description 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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spelling pubmed-63278642019-01-25 Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development Juneja, Manisha Burns, Joshua Saporta, Mario A Timmerman, Vincent J Neurol Neurosurg Psychiatry Neurogenetics 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. BMJ Publishing Group 2019-01 2018-07-17 /pmc/articles/PMC6327864/ /pubmed/30018047 http://dx.doi.org/10.1136/jnnp-2018-318834 Text en © 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. This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
spellingShingle Neurogenetics
Juneja, Manisha
Burns, Joshua
Saporta, Mario A
Timmerman, Vincent
Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development
title Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development
title_full Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development
title_fullStr Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development
title_full_unstemmed Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development
title_short Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development
title_sort challenges in modelling the charcot-marie-tooth neuropathies for therapy development
topic Neurogenetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327864/
https://www.ncbi.nlm.nih.gov/pubmed/30018047
http://dx.doi.org/10.1136/jnnp-2018-318834
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