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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

Insights

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.
  • 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.

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