Related Experiment Video
Updated: May 16, 2026
10:16
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Gaucher disease and other storage disorders.
1Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229-3039, USA. greg.grabowski@cchmc.org
Hematology. American Society of Hematology. Education Program
|December 13, 2012
Summary
Gaucher disease research has led to enzyme therapies for lysosomal storage diseases (LSDs). Understanding LSDs reveals links to common conditions like Parkinson disease and NAFLD/NASH.
Area of Science:
- Biochemistry
- Genetics
- Molecular Pathology
Background:
- Gaucher disease, initially described in 1882, is a systemic inherited disorder.
- Over a century, its nature, variants, and genetic basis have been elucidated.
- Lysosomal storage diseases (LSDs) affect over 7000 live births.
Purpose of the Study:
- To provide pathogenic insights into Gaucher disease and other LSDs.
- To highlight the development of specific therapies for LSDs.
- To explore the connection between LSDs and common diseases.
Main Methods:
- Enzymatic defect identification
- Genetic and genomic analysis
- Molecular pathology studies
Main Results:
- Development of successful enzyme replacement therapy for Gaucher disease.
- Expansion of research and therapies for other LSDs (Fabry, Pompe, Niemann-Pick, mucopolysaccharidoses).
- Recognition of LSDs' molecular links to autophagy, apoptosis, and proteostasis.
Conclusions:
- LSDs impact common diseases including neurodegenerative disorders, cardiovascular conditions, and liver disease.
- Integration of LSDs into routine clinical practice is crucial due to available treatments and disease impact.
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