Related Experiment Video
Updated: Jan 31, 2026
11:40
Characterization of Neuronal Lysosome Interactome with Proximity Labeling Proteomics
Published on: June 23, 2022
3.0K
Lysosomal storage disorders affecting the heart: a review
Vidhya Nair1, Eric C Belanger1, John P Veinot1
1Department of Pathology and Laboratory Medicine, Ottawa Hospital and Faculty of Medicine, University of Ottawa, 451 Smyth Road, Ottawa, Ontario, K1H 8M5, Canada.
Summary
Lysosomal storage disorders (LSD) are genetic diseases causing substrate buildup. Early diagnosis via biopsy and genetic testing is crucial for effective enzyme replacement therapy (ERT) and patient management.
Area of Science:
- Biochemistry
- Genetics
- Pathology
Background:
- Lysosomal storage disorders (LSD) stem from deficiencies in lysosomal proteins, leading to substrate accumulation.
- Cardiac manifestations, including cardiomyopathies and coronary artery disease, are significant in specific LSDs like Pompe disease and Anderson-Fabry disease.
Purpose of the Study:
- To highlight the importance of endomyocardial biopsies in diagnosing LSDs with cardiac involvement.
- To emphasize the role of diagnostic methods and the benefits of emerging therapies.
Main Methods:
- Histopathological examination of endomyocardial biopsies, including special stains and ultrastructural studies.
- Enzymatic and molecular genetic analyses for definitive diagnosis.
Main Results:
- Microscopic findings from biopsies aid in identifying accumulated substrates.
- Diagnosis is confirmed through biochemical and genetic testing.
Conclusions:
- Endomyocardial biopsies are vital for diagnosing LSDs, especially those affecting the heart.
- Enzyme replacement therapy (ERT) shows promise in improving disease features, including cardiac aspects, underscoring the need for early identification and management.
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