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Retinal Degeneration in MPS-IIIA Mouse Model
Daniela Intartaglia1, Giuliana Giamundo1, Elena Marrocco1
1Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.
Frontiers in Cell and Developmental Biology
|March 21, 2020
Summary
Mucopolysaccharidosis type IIIA (MPS-IIIA) causes progressive retinal dystrophy due to heparan sulfate accumulation and impaired autophagy. This study details the retinal pathology in MPS-IIIA mice, aiding diagnosis and therapy development.
Area of Science:
- Lysosomal storage disorders
- Neurodegenerative diseases
- Ophthalmology
Background:
- Mucopolysaccharidosis type IIIA (MPS-IIIA) is a severe lysosomal storage disorder (LSD) resulting from sulfamidase deficiency.
- It leads to heparan sulfate accumulation, causing multisystemic issues, notably severe central nervous system (CNS) impairment and visual deficits.
Purpose of the Study:
- To characterize retinal morphology and function in an MPS-IIIA mouse model.
- To investigate the impact of SGSH deficiency on autophagic flux in the retina.
Main Methods:
- Phenotypic analysis of retinal morphology and function in MPS-IIIA mice.
- Assessment of heparan sulfate (HS) accumulation.
- Evaluation of autophagic flux and apoptotic processes.
- Analysis of microgliosis in the retina.
Main Results:
- MPS-IIIA mice displayed progressive retinal dystrophy with significant visual function decline.
- Photoreceptor degeneration correlated with HS accumulation and blocked autophagy.
- Reactive microgliosis and apoptosis were observed in the retinas of MPS-IIIA mice.
Conclusions:
- This study presents the first comprehensive retinal disorder spectrum in MPS-IIIA.
- Findings contribute to understanding visual impairment in MPS-IIIA and support diagnosis, counseling, and therapeutic strategies.
