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Sphingolipid lysosomal storage diseases: from bench to bedside.
Muna Abed Rabbo1, Yara Khodour1, Laurie S Kaguni2
1Department of Biology and Biochemistry, Birzeit University, P.O. Box 14, Ramallah, West Bank, 627, Palestine.
Lipids in Health and Disease
|May 4, 2021
Summary
Sphingolipidoses are genetic lysosomal storage diseases (LSDs) caused by sphingolipid (SL) metabolism defects. This review covers their causes, effects, and emerging therapies for conditions like Gaucher disease.
Area of Science:
- Biochemistry
- Genetics
- Cell Biology
Background:
- Sphingolipids (SLs) are crucial molecules involved in cellular processes.
- Defects in SL metabolism lead to lysosomal storage diseases (LSDs), known as sphingolipidoses.
- These genetic disorders significantly impact health, particularly neuronal and immune systems.
Purpose of the Study:
- To provide a comprehensive overview of sphingolipid LSDs.
- To detail the etiology, pathology, and current/future therapeutic strategies.
- To consolidate recent findings in basic research and clinical applications.
Main Methods:
- Biochemical analysis of LSDs and sphingolipid catabolism.
- Review of established literature on major sphingolipidoses (e.g., Gaucher, Krabbe, Fabry, Farber).
- Synthesis of current research on disease mechanisms and therapeutic interventions.
Main Results:
- Sphingolipidoses result from impaired SL breakdown, causing toxic accumulation.
- Specific LSDs affect different organs, with significant neurological and immunological consequences.
- A range of therapeutic strategies, from enzyme replacement to gene therapy, are under development.
Conclusions:
- Sphingolipid metabolism disorders represent a significant area of biomedical research.
- Understanding the biochemical basis of these diseases is key to developing effective treatments.
- Continued research promises improved diagnostics and therapies for sphingolipidoses.
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