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Mutations causing Gaucher disease

M Horowitz1, A Zimran

  • 1Department of Cell Research and Immunology, Tel Aviv University, Ramat Aviv, Israel.

Human Mutation
|January 1, 1994
PubMed
Summary
This summary is machine-generated.

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Mutations in the glucocerebrosidase enzyme cause Gaucher disease, a heterogeneous genetic disorder. This review details known mutations and the role of saposin C in Gaucher disease pathogenesis.

Area of Science:

  • Biochemistry
  • Genetics
  • Lysosomal Storage Diseases

Background:

  • Glucocerebrosidase is a key lysosomal enzyme catalyzing glucosylceramide breakdown.
  • Defects in glucocerebrosidase lead to Gaucher disease, an autosomal recessive lysosomal storage disorder.
  • Clinical presentation of Gaucher disease is highly variable.

Purpose of the Study:

  • To review known mutations in the glucocerebrosidase gene associated with Gaucher disease.
  • To highlight common mutations and their impact on enzyme function.
  • To discuss the role of saposin C, a glucocerebrosidase activator, and its related mutations in Gaucher disease.

Main Methods:

  • Literature review of described mutations in the glucocerebrosidase gene.
  • Analysis of mutation frequency and clinical correlation.

Related Experiment Videos

  • Review of studies on saposin C function and mutations.

    • Main Results:

    • 36 distinct mutations in the glucocerebrosidase gene have been identified.
    • A significant number of mutations contribute to the clinical heterogeneity of Gaucher disease.
    • Mutations in the saposin C gene are also linked to Gaucher disease.

    Conclusions:

    • The extensive mutational landscape of glucocerebrosidase underlies Gaucher disease variability.
    • Understanding these mutations is crucial for diagnosis and potential therapeutic strategies.
    • Saposin C represents an additional genetic factor influencing Gaucher disease phenotypes.