Key result
Malignant hyperthermia susceptibility was associated with a non-significant decrease in skeletal muscle triad frequency compared to negative controls (37 vs 43, p=0.13), alongside increased mitochondrial abnormalities.
Case-Control (n=26)
Single-blind
No
Patients with Malignant Hyperthermia susceptibility exhibit minor chronic ultrastructural abnormalities in skeletal muscle, including mitochondrial alterations and micro-damage to the contractile apparatus, even in the absence of active episodes.
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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Lavorato et al. (2016) conducted a case-control in Malignant Hyperthermia susceptibility (n=26). Malignant Hyperthermia susceptibility (MH+) vs. MH negative relatives (MH-) was evaluated on Mean number of triads per intermyofibrillar space (Triads/IMF x 100) (p=0.13). Malignant hyperthermia susceptibility was associated with a non-significant decrease in skeletal muscle triad frequency compared to negative controls (37 vs 43, p=0.13), alongside increased mitochondrial abnormalities.
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