Literature DB >> 30916033

Permeabilised skeletal muscle reveals mitochondrial deficiency in malignant hyperthermia-susceptible individuals.

Leon Chang1, Catherine Daly2, Dorota M Miller1, Paul D Allen1, John P Boyle3, Philip M Hopkins4, Marie-Anne Shaw1.   

Abstract

BACKGROUND: Individuals genetically susceptible to malignant hyperthermia (MH) exhibit hypermetabolic reactions when exposed to volatile anaesthetics. Mitochondrial dysfunction has previously been associated with the MH-susceptible (MHS) phenotype in animal models, but evidence of this in human MH is limited.
METHODS: We used high resolution respirometry to compare oxygen consumption rates (oxygen flux) between permeabilised human MHS and MH-negative (MHN) skeletal muscle fibres with or without prior exposure to halothane. A substrate-uncoupler-inhibitor titration protocol was used to measure the following components of the electron transport chain under conditions of oxidative phosphorylation (OXPHOS) or after uncoupling the electron transport system (ETS): complex I (CI), complex II (CII), CI+CII and, as a measure of mitochondrial mass, complex IV (CIV).
RESULTS: Baseline comparisons without halothane exposure showed significantly increased mitochondrial mass (CIV, P=0.021) but lower flux control ratios in CI+CII(OXPHOS) and CII(ETS) of MHS mitochondria compared with MHN (P=0.033 and 0.005, respectively) showing that human MHS mitochondria have a functional deficiency. Exposure to halothane triggered a hypermetabolic response in MHS mitochondria, significantly increasing mass-specific oxygen flux in CI(OXPHOS), CI+CII(OXPHOS), CI+CII(ETS), and CII(ETS) (P=0.001-0.012), while the rates in MHN samples were unaltered by halothane exposure.
CONCLUSIONS: We present evidence of mitochondrial dysfunction in human MHS skeletal muscle both at baseline and after halothane exposure.
Copyright © 2019 British Journal of Anaesthesia. Published by Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  electron transport chain; malignant hyperthermia; mitochondria, oxidative phosphorylation; skeletal muscle; volatile anaesthetic

Mesh:

Substances:

Year:  2019        PMID: 30916033      PMCID: PMC6972232          DOI: 10.1016/j.bja.2019.02.010

Source DB:  PubMed          Journal:  Br J Anaesth        ISSN: 0007-0912            Impact factor:   9.166


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