neb: a zebrafish model of nemaline myopathy due to nebulin mutation

Nemaline myopathy is one of the most common and severe non-dystrophic muscle diseases of childhood. Patients typically present in infancy with hypotonia, weakness, delayed motor development, and bulbar and respiratory difficulties. Mutations in six different genes are associated with nemaline myopat...

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Main Authors:	Telfer, William R., Nelson, Darcee D., Waugh, Trent, Brooks, Susan V., Dowling, James J.
Format:	Online
Language:	English
Published:	The Company of Biologists Limited 2012
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3339832/

id	pubmed-3339832
recordtype	oai_dc
spelling	pubmed-33398322012-05-02 neb: a zebrafish model of nemaline myopathy due to nebulin mutation Telfer, William R. Nelson, Darcee D. Waugh, Trent Brooks, Susan V. Dowling, James J. Resource Article Nemaline myopathy is one of the most common and severe non-dystrophic muscle diseases of childhood. Patients typically present in infancy with hypotonia, weakness, delayed motor development, and bulbar and respiratory difficulties. Mutations in six different genes are associated with nemaline myopathy, with nebulin mutations being the most common. No treatments or disease-modifying therapies have been identified for this disease. One of the major barriers to treatment development is the lack of models amenable to rapid and coordinated testing of potential therapeutic strategies. To overcome this barrier, we have characterized the first zebrafish model of nemaline myopathy. This model, termed neb, harbors a recessive mutation in the nebulin gene that results in decreased Nebulin protein levels, a severe motor phenotype and premature lethality. In addition to impaired motor function, neb zebrafish exhibit many of the features associated with human nemaline myopathy. These include impaired force generation, altered thin filament length and the presence of specific histopathological changes, including the formation of nemaline bodies. In summary, neb zebrafish mirror the genetic, clinical and pathological aspects of nemaline myopathy due to NEB mutation, and thus are an excellent model for future therapy development for this devastating disorder. The Company of Biologists Limited 2012-05 2011-12-12 /pmc/articles/PMC3339832/ /pubmed/22159874 http://dx.doi.org/10.1242/dmm.008631 Text en © 2012. Published by The Company of Biologists Ltd This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial Share Alike License (http://creativecommons.org/licenses/by-nc-sa/3.0), which permits unrestricted non-commercial use, distribution and reproduction in any medium provided that the original work is properly cited and all further distributions of the work or adaptation are subject to the same Creative Commons License 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	Telfer, William R. Nelson, Darcee D. Waugh, Trent Brooks, Susan V. Dowling, James J.
spellingShingle	Telfer, William R. Nelson, Darcee D. Waugh, Trent Brooks, Susan V. Dowling, James J. neb: a zebrafish model of nemaline myopathy due to nebulin mutation
author_facet	Telfer, William R. Nelson, Darcee D. Waugh, Trent Brooks, Susan V. Dowling, James J.
author_sort	Telfer, William R.
title	neb: a zebrafish model of nemaline myopathy due to nebulin mutation
title_short	neb: a zebrafish model of nemaline myopathy due to nebulin mutation
title_full	neb: a zebrafish model of nemaline myopathy due to nebulin mutation
title_fullStr	neb: a zebrafish model of nemaline myopathy due to nebulin mutation
title_full_unstemmed	neb: a zebrafish model of nemaline myopathy due to nebulin mutation
title_sort	neb: a zebrafish model of nemaline myopathy due to nebulin mutation
description	Nemaline myopathy is one of the most common and severe non-dystrophic muscle diseases of childhood. Patients typically present in infancy with hypotonia, weakness, delayed motor development, and bulbar and respiratory difficulties. Mutations in six different genes are associated with nemaline myopathy, with nebulin mutations being the most common. No treatments or disease-modifying therapies have been identified for this disease. One of the major barriers to treatment development is the lack of models amenable to rapid and coordinated testing of potential therapeutic strategies. To overcome this barrier, we have characterized the first zebrafish model of nemaline myopathy. This model, termed neb, harbors a recessive mutation in the nebulin gene that results in decreased Nebulin protein levels, a severe motor phenotype and premature lethality. In addition to impaired motor function, neb zebrafish exhibit many of the features associated with human nemaline myopathy. These include impaired force generation, altered thin filament length and the presence of specific histopathological changes, including the formation of nemaline bodies. In summary, neb zebrafish mirror the genetic, clinical and pathological aspects of nemaline myopathy due to NEB mutation, and thus are an excellent model for future therapy development for this devastating disorder.
publisher	The Company of Biologists Limited
publishDate	2012
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3339832/
_version_	1611525932448743424

neb: a zebrafish model of nemaline myopathy due to nebulin mutation

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