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Pathobiochemical aspects of cytoskeleton components

D Kunze1, B Rüstow

  • 1Institute of Pathological and Clinical Biochemistry, Charité Hospital, Humboldt University Berlin.

European Journal of Clinical Chemistry and Clinical Biochemistry : Journal of the Forum of European Clinical Chemistry Societies
|August 1, 1993
PubMed
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Cytoskeletal components are crucial in disease pathogenesis. This review explores diseases linked to microfilaments, intermediate filaments, and microtubules, including genetic defects and suspected roles.

Area of Science:

  • Biochemistry
  • Cell Biology
  • Pathology

Background:

  • Cytoskeletal components (microfilaments, intermediate filaments, microtubules) are vital for cellular structure and function.
  • Dysregulation and defects in cytoskeletal proteins are implicated in various human diseases.
  • Previous attempts to classify these disorders based on cytoskeletal changes were unsuccessful.

Purpose of the Study:

  • To review the pathobiochemical aspects of diseases involving cytoskeletal components.
  • To explore the causal links between genetic defects in cytoskeletal proteins and disease phenotypes.
  • To highlight diseases with suspected, yet unproven, cytoskeletal involvement.

Main Methods:

  • Literature review of pathobiochemical aspects of diseases related to cytoskeletal components.

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  • Classification of disorders into three groups: cytoplasmic inclusions, genetic defects, and suspected involvement.
  • Analysis of specific examples including Duchenne muscular dystrophy, Rett syndrome, congenital hemolytic anemias, and epidermolysis bullosa.

    • Main Results:

    • Diseases were categorized into those with cytoplasmic inclusions, genetic defects in cytoskeletal proteins, and suspected cytoskeletal involvement.
    • Specific examples illustrate the role of microfilament defects (e.g., dystrophin in Duchenne muscular dystrophy) and intermediate filament accumulation (e.g., Mallory bodies).
    • Genetic defects in keratin cause epidermolysis bullosa; spectrin defects cause red cell membrane disorders.

    Conclusions:

    • Cytoskeletal components play a significant role in the pathogenesis of diverse diseases.
    • While genetic defects are established in some cases, the pathogenetic interpretation of cytoskeletal changes in others remains unclear.
    • Further research is needed to elucidate the role of the cytoskeleton in diseases like intrahepatic cholestasis, Alzheimer disease, and pemphigus. No diagnostic serum markers for cytoskeletal involvement were identified.