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

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Manuela Lavorato *
Pawan K. Gupta
Philip M. Hopkins
Clara Franzini-Armstrong
(*) Corresponding Author:
Manuela Lavorato | lavman@mail.med.upenn.edu

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.

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Author Biography

Philip M. Hopkins, Malignant Hyperthermia Unit, Leeds Institute of Biomedical and Clinical Sciences, St James’s University Hospital, Leeds

Director of Leeds Biomedical institute