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.
Absolute Event Rate: 37% vs 43%
p-value: p=0.13
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.
Lavorato et al. (Thu,) 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.