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Mitochondrial myopathies.

A E Harding, I J Holt

    British Medical Bulletin
    |July 1, 1989
    PubMed
    Summary
    This summary is machine-generated.

    Mitochondrial myopathies can stem from mitochondrial DNA (mtDNA) deletions, primarily found in muscle tissue. These deletions are linked to specific clinical presentations like progressive external ophthalmoplegia.

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    Area of Science:

    • Neurology
    • Genetics
    • Biochemistry

    Background:

    • Mitochondrial myopathies present diverse clinical syndromes affecting skeletal muscle and the central nervous system.
    • Functional defects in the respiratory chain, particularly complexes I, III, and IV, are identified in vitro.
    • Maternal transmission suggests a role for mitochondrial DNA (mtDNA) mutations.

    Purpose of the Study:

    • To investigate the role of mitochondrial DNA (mtDNA) deletions in the pathogenesis of mitochondrial myopathies.
    • To correlate specific mtDNA deletions with clinical phenotypes and biochemical defects.

    Main Methods:

    • Analysis of muscle and blood mitochondrial DNA (mtDNA) for deletions.
    • Clinical assessment of patients with mitochondrial myopathies.

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  • Biochemical studies of respiratory chain function.

    • Main Results:

    • Approximately 40% of mitochondrial myopathy patients exhibit both normal and deleted mtDNA populations in muscle, with only normal mtDNA in blood.
    • Muscle mtDNA deletions are associated with progressive external ophthalmoplegia and Kearns-Sayre syndrome.
    • Deletions are not found in proximal myopathy or adult-onset CNS syndromes; no clear genotype-phenotype correlation exists.

    Conclusions:

    • Mitochondrial DNA (mtDNA) deletions in muscle are a significant finding in certain mitochondrial myopathies.
    • The presence of mtDNA deletions correlates with specific clinical syndromes, particularly progressive external ophthalmoplegia.
    • Clinical and biochemical heterogeneity exists even among patients with similar mtDNA deletions.