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Skeletal muscle microalterations in patients carrying Malignant Hyperthermia-related mutations of the e-c coupling machinery

Manuela Lavorato, Pawan K. Gupta, Philip M. Hopkins, Clara Franzini-Armstrong
  • Manuela Lavorato
    Department of Cell and Developmental Biology, University of Pennsylvania School of Medicine, Philadelphia, PA, United States | lavman@mail.med.upenn.edu
  • Pawan K. Gupta
    Malignant Hyperthermia Unit, Leeds Institute of Biomedical and Clinical Sciences, St James’s University Hospital, Leeds, United Kingdom
  • Philip M. Hopkins
    Malignant Hyperthermia Unit, Leeds Institute of Biomedical and Clinical Sciences, St James’s University Hospital, Leeds, United Kingdom
  • Clara Franzini-Armstrong
    Department of Cell and Developmental Biology, University of Pennsylvania School of Medicine, Philadelphia, PA, United States

Abstract

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.

Keywords

Malignant hyperthermia; Ultrastructure; Skeletal muscle; Mitochondria

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Submitted: 2016-06-22 16:11:41
Published: 2016-12-15 00:00:00
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Copyright (c) 2016 Manuela Lavorato, Pawan K. Gupta, Philip M. Hopkins, Clara Franzini-Armstrong

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