Cargando…

Dysferlin at transverse tubules regulates Ca(2+) homeostasis in skeletal muscle

The class of muscular dystrophies linked to the genetic ablation or mutation of dysferlin, including Limb Girdle Muscular Dystrophy 2B (LGMD2B) and Miyoshi Myopathy (MM), are late-onset degenerative diseases. In lieu of a genetic cure, treatments to prevent or slow the progression of dysferlinopathy...

Descripción completa

Detalles Bibliográficos
Autores principales: Kerr, Jaclyn P., Ward, Christopher W., Bloch, Robert J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3944681/
https://www.ncbi.nlm.nih.gov/pubmed/24639655
http://dx.doi.org/10.3389/fphys.2014.00089
_version_ 1782306423628103680
author Kerr, Jaclyn P.
Ward, Christopher W.
Bloch, Robert J.
author_facet Kerr, Jaclyn P.
Ward, Christopher W.
Bloch, Robert J.
author_sort Kerr, Jaclyn P.
collection PubMed
description The class of muscular dystrophies linked to the genetic ablation or mutation of dysferlin, including Limb Girdle Muscular Dystrophy 2B (LGMD2B) and Miyoshi Myopathy (MM), are late-onset degenerative diseases. In lieu of a genetic cure, treatments to prevent or slow the progression of dysferlinopathy are of the utmost importance. Recent advances in the study of dysferlinopathy have highlighted the necessity for the maintenance of calcium handling in altering or slowing the progression of muscular degeneration resulting from the loss of dysferlin. This review highlights new evidence for a role for dysferlin at the transverse (t-) tubule of striated muscle, where it is involved in maintaining t-tubule structure and function.
format Online
Article
Text
id pubmed-3944681
institution National Center for Biotechnology Information
language English
publishDate 2014
publisher Frontiers Media S.A.
record_format MEDLINE/PubMed
spelling pubmed-39446812014-03-17 Dysferlin at transverse tubules regulates Ca(2+) homeostasis in skeletal muscle Kerr, Jaclyn P. Ward, Christopher W. Bloch, Robert J. Front Physiol Physiology The class of muscular dystrophies linked to the genetic ablation or mutation of dysferlin, including Limb Girdle Muscular Dystrophy 2B (LGMD2B) and Miyoshi Myopathy (MM), are late-onset degenerative diseases. In lieu of a genetic cure, treatments to prevent or slow the progression of dysferlinopathy are of the utmost importance. Recent advances in the study of dysferlinopathy have highlighted the necessity for the maintenance of calcium handling in altering or slowing the progression of muscular degeneration resulting from the loss of dysferlin. This review highlights new evidence for a role for dysferlin at the transverse (t-) tubule of striated muscle, where it is involved in maintaining t-tubule structure and function. Frontiers Media S.A. 2014-03-06 /pmc/articles/PMC3944681/ /pubmed/24639655 http://dx.doi.org/10.3389/fphys.2014.00089 Text en Copyright © 2014 Kerr, Ward and Bloch. http://creativecommons.org/licenses/by/3.0/ 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.
spellingShingle Physiology
Kerr, Jaclyn P.
Ward, Christopher W.
Bloch, Robert J.
Dysferlin at transverse tubules regulates Ca(2+) homeostasis in skeletal muscle
title Dysferlin at transverse tubules regulates Ca(2+) homeostasis in skeletal muscle
title_full Dysferlin at transverse tubules regulates Ca(2+) homeostasis in skeletal muscle
title_fullStr Dysferlin at transverse tubules regulates Ca(2+) homeostasis in skeletal muscle
title_full_unstemmed Dysferlin at transverse tubules regulates Ca(2+) homeostasis in skeletal muscle
title_short Dysferlin at transverse tubules regulates Ca(2+) homeostasis in skeletal muscle
title_sort dysferlin at transverse tubules regulates ca(2+) homeostasis in skeletal muscle
topic Physiology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3944681/
https://www.ncbi.nlm.nih.gov/pubmed/24639655
http://dx.doi.org/10.3389/fphys.2014.00089
work_keys_str_mv AT kerrjaclynp dysferlinattransversetubulesregulatesca2homeostasisinskeletalmuscle
AT wardchristopherw dysferlinattransversetubulesregulatesca2homeostasisinskeletalmuscle
AT blochrobertj dysferlinattransversetubulesregulatesca2homeostasisinskeletalmuscle