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Mitochondrial encephalomyopathies.

A Lombes1, E Bonilla, S Dimauro

  • 1H Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, College of Physicians and Surgeons, Columbia University, New York, NY 10032.

Revue Neurologique
|January 1, 1989
PubMed
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Mitochondrial diseases, particularly those affecting the neuromuscular system, are increasingly studied. This review covers their morphology, clinical features, biochemistry, and genetics, including specific syndromes and inheritance patterns.

Area of Science:

  • Neurology
  • Genetics
  • Biochemistry

Background:

  • Mitochondrial diseases, especially neuromuscular types, are a growing area of research.
  • Early definitions relied on a triad of clinical, histological, and biochemical findings, but current understanding is broader.
  • Mitochondrial myopathies are often characterized by muscle mitochondrial abnormalities.

Purpose of the Study:

  • To review the morphological, clinical, biochemical, and genetic aspects of mitochondrial encephalomyopathies.
  • To discuss the classification and specific syndromes associated with these diseases.
  • To highlight the genetic basis, including nuclear and mitochondrial DNA involvement.

Main Methods:

  • Review of existing literature on mitochondrial encephalomyopathies.

Related Experiment Videos

  • Description of mitochondrial morphological abnormalities.
  • Discussion of clinical and biochemical classifications.
  • Examination of genetic inheritance patterns (Mendelian and maternal).

    • Main Results:

    • Mitochondrial morphological abnormalities are not disease-specific and can occur in non-mitochondrial conditions.
    • Clinical classification involves differing views ('lumpers' vs. 'splitters') with specific syndromes identified (CPEO, KSS, MERRF, MELAS, Leigh, Alpers).
    • Biochemical defects span mitochondrial membrane transport, substrate utilization, Krebs' cycle, oxidative phosphorylation, and respiratory chain complexes.
    • Genetic causes involve both nuclear (Mendelian) and mitochondrial (maternal) genomes.

    Conclusions:

    • Mitochondrial encephalomyopathies are complex, with diverse presentations and underlying causes.
    • Understanding the interplay between morphology, clinical symptoms, biochemistry, and genetics is crucial for diagnosis and research.
    • Both nuclear and mitochondrial DNA mutations contribute to the spectrum of these debilitating diseases.