A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration
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The neuronal ceroid lipofuscinoses (NCLs) constitute a group of neurodegenerative storage diseases characterized by progressive psychomotor retardation, blindness and premature death. Pathologically, there is accumulation of autofluorescent material in lysosome-derived organelles in a variety of cell types, but neurons in the central nervous system appear to be selectively affected and undergo progressive death. In this report we show that a novel form of NCL, congenital ovine NCL, is caused by a deficiency in the lysosomal aspartyl proteinase cathepsin D. A single nucleotide mutation in the cathepsin D gene results in conversion of an active site aspartate to asparagine, leading to production of an enzymatically inactive but stable protein. This results in severe cerebrocortical atrophy and early death, providing strong evidence for an important role of cathepsin D in neuronal development and/or homeostasis.
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CTSD is a ubiquitous protease, but its unique importance in brain is illustrated by the relatively selective neurodevelopmental and progressive neurodegenerative phenotype induced by loss-of-function CTSD mutations causing CLN10.
“CTSD is a ubiquitous protease, but its unique importance in brain is illustrated by the relatively selective neurodevelopmental and progressive neurodegenerative phenotype induced by the loss-of-function CTSD mutations causing the congenital disorder neuronal ceroid lipofuscinosis CLN10 (Tyynela ¨et al., 2000;Siintola et al., 2006).”
From Lysosomal Dysfunction in Down Syndrome Is APP-Dependent and Mediated by APP-βCTF (C99) (2019) · cites this paper as Tyynela ¨et al., 2000
The Results describe a loss-of-function cathepsin D mutation in sheep with severe brain pathology at birth, while other examined organs appeared macroscopically unaffected; the Discussion calls brain pathology the most striking feature. But this paper does not establish that CTSD mutations cause human CLN10: its Discussion says that whether congenital human NCL represents cathepsin D deficiency remains to be determined. (LLM, conf=0.86)
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- Authors
- Tyynelä, J., Sohar, I., Sleat, D. E., Gin, R. M., Donnelly, R. J., Baumann, M., Haltia, M., & Lobel, P.
- Affiliations
- University of Helsinki (FI)
- Rutgers, The State University of New Jersey (US)
- Rutgers New Jersey Medical School (US)
- Corresponding author
- Tyynelä, Jaana
- Lobel, Peter
- Venue
- The EMBO Journal
- Published
- 2000-06-15
- Volume
- 19
- Issue
- 12
- Pages
- 2786-2792
- ISSN
- 0261-4189 (ISSN-L)
- 1460-2075
- PMC
- PMC203370
- OpenAlex
- W2040107841
- Cited by
- 245
- References
- 49
- Citations by year
- 2026: 2 · 2025: 4 · 2024: 5 · 2023: 2 · 2022: 6 · 2021: 4 · 2020: 7 · 2019: 5 · 2018: 2 · 2017: 5 · 2016: 10 · 2015: 7 · 2014: 5 · 2013: 12 · 2012: 14
- FWCI
- 6.75
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- The EMBO Journal (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Lastentautien Tutkimussäätiö
- National Institutes of Health (5r01dk045992-08)
- National Institute of Diabetes and Digestive and Kidney Diseases (DK-54317, DK-45992, R01DK054317)
- National Institute of Neurological Disorders and Stroke (NS-37918, R01NS037918)
- Topics
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
- Health Sciences › Medicine › Pathology and Forensic Medicine › Biomedical Research and Pathophysiology
- Keywords
- neuronal ceroid lipofuscinosis, cathepsin D, lysosomal storage disease, neurodegeneration, sheep model, point mutations, lysosomal protein degradation, neuronal development
- MeSH terms
- Amino Acid Sequence, Animals, Cathepsin D, Liver, Lysosomes, Molecular Sequence Data, Mutation, Neuronal Ceroid-Lipofuscinoses, Sheep, Sequence Homology, Amino Acid, Lysosomal Storage Diseases, Nervous System
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