Brain Pathogenesis and Potential Therapeutic Strategies in Myotonic Dystrophy Type 1

Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy that affects multiple systems including the muscle and heart. The mutant CTG expansion at the 3′-UTR of the DMPK gene causes the expression of toxic RNA that aggregate as nuclear foci. The foci then interfere with RNA-binding prot...

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Autores principales:	Jie Liu, Zhen-Ni Guo, Xiu-Li Yan, Yi Yang, Shuo Huang
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	myotonic dystrophy type 1 central nervous system pathology mechanism treatment Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
Acceso en línea:	https://doaj.org/article/cfed02bc28a040b2bf4ae7865a872a49
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spelling	oai:doaj.org-article:cfed02bc28a040b2bf4ae7865a872a492021-11-15T06:59:29ZBrain Pathogenesis and Potential Therapeutic Strategies in Myotonic Dystrophy Type 11663-436510.3389/fnagi.2021.755392https://doaj.org/article/cfed02bc28a040b2bf4ae7865a872a492021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fnagi.2021.755392/fullhttps://doaj.org/toc/1663-4365Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy that affects multiple systems including the muscle and heart. The mutant CTG expansion at the 3′-UTR of the DMPK gene causes the expression of toxic RNA that aggregate as nuclear foci. The foci then interfere with RNA-binding proteins, affecting hundreds of mis-spliced effector genes, leading to aberrant alternative splicing and loss of effector gene product functions, ultimately resulting in systemic disorders. In recent years, increasing clinical, imaging, and pathological evidence have indicated that DM1, though to a lesser extent, could also be recognized as true brain diseases, with more and more researchers dedicating to develop novel therapeutic tools dealing with it. In this review, we summarize the current advances in the pathogenesis and pathology of central nervous system (CNS) deficits in DM1, intervention measures currently being investigated are also highlighted, aiming to promote novel and cutting-edge therapeutic investigations.Jie LiuJie LiuJie LiuZhen-Ni GuoZhen-Ni GuoZhen-Ni GuoXiu-Li YanYi YangYi YangYi YangShuo HuangShuo HuangShuo HuangFrontiers Media S.A.articlemyotonic dystrophy type 1central nervous systempathologymechanismtreatmentNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571ENFrontiers in Aging Neuroscience, Vol 13 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	myotonic dystrophy type 1 central nervous system pathology mechanism treatment Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
spellingShingle	myotonic dystrophy type 1 central nervous system pathology mechanism treatment Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Jie Liu Jie Liu Jie Liu Zhen-Ni Guo Zhen-Ni Guo Zhen-Ni Guo Xiu-Li Yan Yi Yang Yi Yang Yi Yang Shuo Huang Shuo Huang Shuo Huang Brain Pathogenesis and Potential Therapeutic Strategies in Myotonic Dystrophy Type 1
description	Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy that affects multiple systems including the muscle and heart. The mutant CTG expansion at the 3′-UTR of the DMPK gene causes the expression of toxic RNA that aggregate as nuclear foci. The foci then interfere with RNA-binding proteins, affecting hundreds of mis-spliced effector genes, leading to aberrant alternative splicing and loss of effector gene product functions, ultimately resulting in systemic disorders. In recent years, increasing clinical, imaging, and pathological evidence have indicated that DM1, though to a lesser extent, could also be recognized as true brain diseases, with more and more researchers dedicating to develop novel therapeutic tools dealing with it. In this review, we summarize the current advances in the pathogenesis and pathology of central nervous system (CNS) deficits in DM1, intervention measures currently being investigated are also highlighted, aiming to promote novel and cutting-edge therapeutic investigations.
format	article
author	Jie Liu Jie Liu Jie Liu Zhen-Ni Guo Zhen-Ni Guo Zhen-Ni Guo Xiu-Li Yan Yi Yang Yi Yang Yi Yang Shuo Huang Shuo Huang Shuo Huang
author_facet	Jie Liu Jie Liu Jie Liu Zhen-Ni Guo Zhen-Ni Guo Zhen-Ni Guo Xiu-Li Yan Yi Yang Yi Yang Yi Yang Shuo Huang Shuo Huang Shuo Huang
author_sort	Jie Liu
title	Brain Pathogenesis and Potential Therapeutic Strategies in Myotonic Dystrophy Type 1
title_short	Brain Pathogenesis and Potential Therapeutic Strategies in Myotonic Dystrophy Type 1
title_full	Brain Pathogenesis and Potential Therapeutic Strategies in Myotonic Dystrophy Type 1
title_fullStr	Brain Pathogenesis and Potential Therapeutic Strategies in Myotonic Dystrophy Type 1
title_full_unstemmed	Brain Pathogenesis and Potential Therapeutic Strategies in Myotonic Dystrophy Type 1
title_sort	brain pathogenesis and potential therapeutic strategies in myotonic dystrophy type 1
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/cfed02bc28a040b2bf4ae7865a872a49
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Brain Pathogenesis and Potential Therapeutic Strategies in Myotonic Dystrophy Type 1

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