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Published on: March 17, 2012
Pre-clinical Mouse Models of Neurodegenerative Lysosomal Storage Diseases
Jacob M Favret1, Nadav I Weinstock1, M Laura Feltri1
1Hunter James Kelly Research Institute, Department of Biochemistry and Neurology, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY, United States.
Abstract:
There are over 50 lysosomal hydrolase deficiencies, many of which cause neurodegeneration, cognitive decline and death. In recent years, a number of broad innovative therapies have been proposed and investigated for lysosomal storage diseases (LSDs), such as enzyme replacement, substrate reduction, pharmacologic chaperones, stem cell transplantation, and various forms of gene therapy. Murine models that accurately reflect the phenotypes observed in human LSDs are critical for the development, assessment and implementation of novel translational therapies. The goal of this review is to summarize the neurodegenerative murine LSD models available that recapitulate human disease, and the pre-clinical studies previously conducted. We also describe some limitations and difficulties in working with mouse models of neurodegenerative LSDs.
Insights
Neurodegenerative lysosomal storage diseases (LSDs) impact cognition and survival. This review details mouse models of LSDs, evaluating their use in preclinical studies for novel therapies.
Area of Science:
- Biomedical research
- Neuroscience
- Genetics
Background:
- Over 50 lysosomal hydrolase deficiencies cause neurodegeneration and cognitive decline.
- Lysosomal storage diseases (LSDs) represent a significant unmet medical need.
- Innovative therapies like gene therapy and enzyme replacement are under investigation.
Purpose of the Study:
- To review neurodegenerative murine models of LSDs that mimic human disease phenotypes.
- To summarize preclinical studies conducted using these models.
- To discuss the limitations and challenges of using mouse models in LSD research.
Main Methods:
- Literature review of published studies on murine models of neurodegenerative LSDs.
- Analysis of preclinical therapeutic studies in these models.
- Identification and discussion of common challenges in LSD mouse model research.
Main Results:
- Several murine models accurately recapitulate human LSD phenotypes, aiding therapeutic development.
- Preclinical studies in these models have informed the assessment of novel treatments.
- Challenges include model limitations and translation to human patients.
Conclusions:
- Neurodegenerative LSD mouse models are crucial for advancing translational therapies.
- Further refinement of models and study designs is necessary for effective treatment development.
- Understanding model limitations is key to successful therapeutic implementation.
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