Skeletal muscle pathology in Huntington's disease

Huntington's disease (HD) is a hereditary neurodegenerative disorder caused by the expansion of a polyglutamine stretch within the huntingtin protein (HTT). The neurological symptoms, that involve motor, cognitive and psychiatric disturbances, are caused by neurodegeneration that is particularl...

Full description

Bibliographic Details
Main Authors:	Zielonka, Daniel, Piotrowska, Izabela, Marcinkowski, Jerzy T., Mielcarek, Michal
Format:	Online
Language:	English
Published:	Frontiers Media S.A. 2014
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4186279/

id	pubmed-4186279
recordtype	oai_dc
spelling	pubmed-41862792014-10-22 Skeletal muscle pathology in Huntington's disease Zielonka, Daniel Piotrowska, Izabela Marcinkowski, Jerzy T. Mielcarek, Michal Physiology Huntington's disease (HD) is a hereditary neurodegenerative disorder caused by the expansion of a polyglutamine stretch within the huntingtin protein (HTT). The neurological symptoms, that involve motor, cognitive and psychiatric disturbances, are caused by neurodegeneration that is particularly widespread in the basal ganglia and cereberal cortex. HTT is ubiquitously expressed and in recent years it has become apparent that HD patients experience a wide array of peripheral organ dysfunction including severe metabolic phenotype, weight loss, HD-related cardiomyopathy and skeletal muscle wasting. Although skeletal muscles pathology became a hallmark of HD, the mechanisms underlying muscular atrophy in this disorder are unknown. Skeletal muscles account for approximately 40% of body mass and are highly adaptive to physiological and pathological conditions that may result in muscle hypertrophy (due to increased mechanical load) or atrophy (inactivity, chronic disease states). The atrophy is caused by degeneration of myofibers and their replacement by fibrotic tissue is the major pathological feature in many genetic muscle disorders. Under normal physiological conditions the muscle function is orchestrated by a network of intrinsic hypertrophic and atrophic signals linked to the functional properties of the motor units that are likely to be imbalanced in HD. In this article, we highlight the emerging field of research with particular focus on the recent studies of the skeletal muscle pathology and the identification of new disease-modifying treatments. Frontiers Media S.A. 2014-10-06 /pmc/articles/PMC4186279/ /pubmed/25339908 http://dx.doi.org/10.3389/fphys.2014.00380 Text en Copyright © 2014 Zielonka, Piotrowska, Marcinkowski and Mielcarek. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Zielonka, Daniel Piotrowska, Izabela Marcinkowski, Jerzy T. Mielcarek, Michal
spellingShingle	Zielonka, Daniel Piotrowska, Izabela Marcinkowski, Jerzy T. Mielcarek, Michal Skeletal muscle pathology in Huntington's disease
author_facet	Zielonka, Daniel Piotrowska, Izabela Marcinkowski, Jerzy T. Mielcarek, Michal
author_sort	Zielonka, Daniel
title	Skeletal muscle pathology in Huntington's disease
title_short	Skeletal muscle pathology in Huntington's disease
title_full	Skeletal muscle pathology in Huntington's disease
title_fullStr	Skeletal muscle pathology in Huntington's disease
title_full_unstemmed	Skeletal muscle pathology in Huntington's disease
title_sort	skeletal muscle pathology in huntington's disease
description	Huntington's disease (HD) is a hereditary neurodegenerative disorder caused by the expansion of a polyglutamine stretch within the huntingtin protein (HTT). The neurological symptoms, that involve motor, cognitive and psychiatric disturbances, are caused by neurodegeneration that is particularly widespread in the basal ganglia and cereberal cortex. HTT is ubiquitously expressed and in recent years it has become apparent that HD patients experience a wide array of peripheral organ dysfunction including severe metabolic phenotype, weight loss, HD-related cardiomyopathy and skeletal muscle wasting. Although skeletal muscles pathology became a hallmark of HD, the mechanisms underlying muscular atrophy in this disorder are unknown. Skeletal muscles account for approximately 40% of body mass and are highly adaptive to physiological and pathological conditions that may result in muscle hypertrophy (due to increased mechanical load) or atrophy (inactivity, chronic disease states). The atrophy is caused by degeneration of myofibers and their replacement by fibrotic tissue is the major pathological feature in many genetic muscle disorders. Under normal physiological conditions the muscle function is orchestrated by a network of intrinsic hypertrophic and atrophic signals linked to the functional properties of the motor units that are likely to be imbalanced in HD. In this article, we highlight the emerging field of research with particular focus on the recent studies of the skeletal muscle pathology and the identification of new disease-modifying treatments.
publisher	Frontiers Media S.A.
publishDate	2014
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4186279/
_version_	1613141100973785088

Skeletal muscle pathology in Huntington's disease

Similar Items