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Fabry disease: Mechanism and therapeutics strategies

Xi Li1, Xiangyi Ren2, Yabing Zhang1

  • 1Department of Anesthesiology, West China Hospital of Sichuan University, Chengdu, China.

Frontiers in Pharmacology
|November 17, 2022
PubMed

Insights

Fabry disease, caused by alpha-galactosidase A deficiency, leads to organ damage. This review explores current understanding and therapeutic strategies like enzyme replacement and gene therapy for Fabry disease.

Area of Science:

  • Biochemistry
  • Genetics
  • Rare Diseases

Background:

  • Fabry disease is a monogenic disorder resulting from alpha-galactosidase A (GLA) deficiency.
  • Impaired GLA activity causes substrate accumulation, leading to progressive organ damage in the heart, kidney, and brain.
  • Mechanisms of organ damage in Fabry disease are not fully understood, limiting effective treatments.

Purpose of the Study:

  • To review current knowledge of Fabry disease mechanisms.
  • To discuss existing and emerging therapeutic strategies for Fabry disease.
  • To identify future directions for Fabry disease treatment development.

Main Methods:

  • Systematic review of literature on Fabry disease.
  • Analysis of current therapeutic approaches including enzyme replacement therapy (ERT), gene therapy, and chaperone therapy.
  • Discussion of strategies targeting cellular compartments like lysosomes, endoplasmic reticulum, and nucleus.

Main Results:

  • Current treatments for Fabry disease show some efficacy but have limitations.
  • Various therapeutic strategies are being investigated, including ERT, gene therapy, and chaperone therapy.
  • Targeting subcellular compartments offers novel approaches to address Fabry disease pathology.

Conclusions:

  • A deeper understanding of Fabry disease mechanisms is crucial for developing improved therapies.
  • Further research is needed to overcome limitations of current treatments and explore novel therapeutic avenues.
  • Future Fabry disease treatments may involve combination therapies or strategies targeting specific cellular pathways.
Keywords:
alpha-galactosidase A deficiencyfabry diseasefabry therapeutic strategieslysosomal storage disordermechanistic research

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