Magnetic resonance reveals mitochondrial dysfunction and muscle remodelling in spinal muscular atrophy.

ABSTRACT: Genetic therapy has changed the prognosis of hereditary proximal spinal muscular atrophy, although treatment efficacy has been variable. There is a clear need for deeper understanding of underlying causes of muscle weakness and exercise intolerance in patients with this disease to further optimize treatment strategies. Animal models suggest that in addition to motor neuron and associated musculature degeneration, intrinsic abnormalities of muscle itself including mitochondrial dysfunction contribute to the disease aetiology. To test this hypothesis in patients, we conducted the first in vivo clinical investigation of muscle bioenergetics. We recruited 15 patients and 15 healthy age and gender-matched control subjects in this cross-sectional clinico-radiological study. MRI and 31P magnetic

SUBMITTER: Habets LE 

PROVIDER: S-EPMC9128825 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature