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Mitochondria in neuromuscular disorders

S DiMauro1, E Bonilla, M Davidson

  • 1Department of Neurology, H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia University College of Physicians and Surgeons, 4-420, 630 West 168th Street, New York, NY 10032, USA. sd12@columbia.edu

Biochimica Et Biophysica Acta
|August 26, 1998
PubMed
Summary

This review covers primary mitochondrial diseases of the respiratory chain, including those from nuclear and mitochondrial DNA mutations. It highlights cytochrome c oxidase and coenzyme Q10 deficiencies, and discusses cellular mechanisms of disease.

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Area of Science:

  • Biochemistry
  • Genetics
  • Cell Biology

Background:

  • Primary mitochondrial diseases affect the respiratory chain, impacting cellular energy production.
  • These disorders arise from mutations in either nuclear or mitochondrial DNA, complicating traditional classifications.
  • The review focuses on mitochondrial encephalomyopathies, extending beyond purely neuromuscular conditions.

Purpose of the Study:

  • To review primary mitochondrial diseases affecting the respiratory chain.
  • To discuss molecular data and outstanding questions regarding nuclear and mitochondrial genome mutations.
  • To summarize clinical presentations and explore pathogenic mechanisms.

Main Methods:

  • Literature review of primary mitochondrial diseases.
  • Analysis of molecular data from nuclear and mitochondrial DNA defects.

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  • Synthesis of information on clinical presentations and pathogenic mechanisms.

    • Main Results:

    • Primary mitochondrial diseases can stem from nuclear gene defects (affecting protein synthesis, import, or signaling) or mitochondrial DNA mutations (rearrangements or point mutations).
    • Specific examples include cytochrome c oxidase deficiency and coenzyme Q10 deficiency.
    • Pathogenic mechanisms and cell death processes (excitotoxicity in neurons, apoptosis in muscle) are complex and not fully understood.

    Conclusions:

    • Mitochondrial diseases present diverse clinical phenotypes due to genetic heterogeneity.
    • Understanding the molecular basis and pathogenesis of these disorders is crucial for diagnosis and treatment.
    • Further research is needed to elucidate the precise mechanisms underlying mitochondrial disease progression and cell death.