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Related Experiment Videos

Late-onset mitochondrial myopathy

W Johnston1, G Karpati, S Carpenter

  • 1Montreal Neurological Institute, Quebec, Canada.

Annals of Neurology
|January 1, 1995
PubMed
Summary

Late-onset skeletal myopathy in older adults is linked to mitochondrial DNA deletions. This study reveals focal mtDNA deletions and altered muscle energy in elderly patients, suggesting a primary mitochondrial disease.

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Area of Science:

  • Neurology
  • Genetics
  • Biochemistry

Background:

  • Mitochondrial encephalomyopathies typically manifest in early adulthood.
  • Late-onset mitochondrial diseases are less understood, particularly in skeletal muscle.

Observation:

  • A cohort of 9 elderly patients (>69 years) presented with late-onset skeletal myopathy.
  • Clinical features included proximal muscle weakness, fatigability, and axial muscle weakness.
  • Muscle biopsies showed focal accumulations of deleted mitochondrial DNAs (mtDNAs) and altered energy status.

Findings:

  • Accumulations of messenger RNAs from deleted mtDNAs were observed in muscle fibers.
  • Affected fibers displayed characteristic 'ragged red' and succinate dehydrogenase hyperreactivity, with cytochrome c oxidase deficiency.
  • Increased frequency of deleted mtDNAs and reduced phosphocreatine-inorganic phosphate ratio were detected in patients compared to controls.

Implications:

  • The findings suggest mitochondrial dysfunction due to clonal expansion of mtDNA deletions underlies this late-onset myopathy.
  • This condition may represent an accelerated form of age-related mitochondrial changes.
  • Understanding these mechanisms could inform therapeutic strategies for age-related muscle disorders.

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