Brain of miyoshi myopathy/dysferlinopathy patients presents with structural and metabolic anomalies.

ABSTRACT: Miyoshi myopathy/dysferlinopathy (MMD) is a rare muscle disease caused by DYSF gene mutations. Apart from skeletal muscles, DYSF is also expressed in the brain. However, the impact of MMD-causing DYSF variants on brain structure and function remains unexplored. To investigate this, we utilized magnetic resonance (MR) modalities (MR volumetry and ³¹P MR spectroscopy) in a family with seven children, four of whom have the illness. The MMD siblings showed distinct differences from healthy controls: (1) a significant (p < 0.001) right-sided volume asymmetry (+ 232 mm³) of the inferior lateral ventricles; and (2) a significant (p < 0.001) decrease in [Mg²⁺], along with a modified energy metabolism profile and altered membrane turnover in the hippocampus and moto

SUBMITTER: Hnilicova P 

PROVIDER: S-EPMC11336102 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature