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Skeletal Muscle Microalterations in Patients Carrying Malignant Hyperthermia-Related Mutations of the e-c Coupling Machinery

We have compared the ultrastructure of skeletal muscle biopsies from patients that have survived a [Malignant Hyperthermia, MH] episode and siblings that test positive for MH susceptibility with those from siblings that tested negatives. The aim is to establish whether life long exposure to the MH-r...

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Autores principales: Lavorato, Manuela, Gupta, Pawan K, Hopkins, Philip M, Franzini-Armstrong, Clara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Publications, Pavia, Italy 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5220216/
https://www.ncbi.nlm.nih.gov/pubmed/28078069
http://dx.doi.org/10.4081/ejtm.2016.6105
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author Lavorato, Manuela
Gupta, Pawan K
Hopkins, Philip M
Franzini-Armstrong, Clara
author_facet Lavorato, Manuela
Gupta, Pawan K
Hopkins, Philip M
Franzini-Armstrong, Clara
author_sort Lavorato, Manuela
collection PubMed
description We have compared the ultrastructure of skeletal muscle biopsies from patients that have survived a [Malignant Hyperthermia, MH] episode and siblings that test positive for MH susceptibility with those from siblings that tested negatives. The aim is to establish whether life long exposure to the MH-related mutation effects may result in subtle abnormalities even in the absence of active episodes and/or clinically detectable deficiencies. Although a specific ultrastructural signature for MH mutants cannot be demonstrated, an MH related pattern of minor alterations does exist. These include the tendency for micro damage to the contractile apparatus and a higher than normal level of mitochondrial abnormalities.
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spelling pubmed-52202162017-01-11 Skeletal Muscle Microalterations in Patients Carrying Malignant Hyperthermia-Related Mutations of the e-c Coupling Machinery Lavorato, Manuela Gupta, Pawan K Hopkins, Philip M Franzini-Armstrong, Clara Eur J Transl Myol Myology Made in Italy We have compared the ultrastructure of skeletal muscle biopsies from patients that have survived a [Malignant Hyperthermia, MH] episode and siblings that test positive for MH susceptibility with those from siblings that tested negatives. The aim is to establish whether life long exposure to the MH-related mutation effects may result in subtle abnormalities even in the absence of active episodes and/or clinically detectable deficiencies. Although a specific ultrastructural signature for MH mutants cannot be demonstrated, an MH related pattern of minor alterations does exist. These include the tendency for micro damage to the contractile apparatus and a higher than normal level of mitochondrial abnormalities. PAGEPress Publications, Pavia, Italy 2016-12-15 /pmc/articles/PMC5220216/ /pubmed/28078069 http://dx.doi.org/10.4081/ejtm.2016.6105 Text en http://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution Noncommercial License (by-nc 4.0) which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited.
spellingShingle Myology Made in Italy
Lavorato, Manuela
Gupta, Pawan K
Hopkins, Philip M
Franzini-Armstrong, Clara
Skeletal Muscle Microalterations in Patients Carrying Malignant Hyperthermia-Related Mutations of the e-c Coupling Machinery
title Skeletal Muscle Microalterations in Patients Carrying Malignant Hyperthermia-Related Mutations of the e-c Coupling Machinery
title_full Skeletal Muscle Microalterations in Patients Carrying Malignant Hyperthermia-Related Mutations of the e-c Coupling Machinery
title_fullStr Skeletal Muscle Microalterations in Patients Carrying Malignant Hyperthermia-Related Mutations of the e-c Coupling Machinery
title_full_unstemmed Skeletal Muscle Microalterations in Patients Carrying Malignant Hyperthermia-Related Mutations of the e-c Coupling Machinery
title_short Skeletal Muscle Microalterations in Patients Carrying Malignant Hyperthermia-Related Mutations of the e-c Coupling Machinery
title_sort skeletal muscle microalterations in patients carrying malignant hyperthermia-related mutations of the e-c coupling machinery
topic Myology Made in Italy
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5220216/
https://www.ncbi.nlm.nih.gov/pubmed/28078069
http://dx.doi.org/10.4081/ejtm.2016.6105
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