Related Experiment Video
Updated: Dec 24, 2025
08:51
Profiling of Permethylated Mucin O-glycans Using Matrix-assisted Laser Desorption/Ionization Time-of-flight Mass Spectrometry
Published on: June 20, 2025
474
Pathogenesis of Mucopolysaccharidoses, an Update
Simona Fecarotta1, Antonietta Tarallo1,2, Carla Damiano1,2
1Department of Translational Medical Sciences, Federico II University, 80131 Naples, Italy.
International Journal of Molecular Sciences
|April 9, 2020
Summary
Mucopolysaccharidoses (MPSs) involve more than just lysosomal storage. New research reveals complex cellular dysfunction cascades, offering novel therapeutic targets for these rare genetic disorders.
Area of Science:
- Lysosomal biology
- Cellular pathophysiology
- Genetic disorders
Background:
- Recent advancements in lysosomal biology have refined understanding of mucopolysaccharidoses (MPSs).
- The traditional view of MPS pathophysiology solely as lysosomal engorgement with glycosaminoglycans (GAGs) is evolving.
- Lysosomes are now recognized as critical signaling hubs influencing numerous cellular functions.
Purpose of the Study:
- To challenge the simplistic view of MPS pathophysiology.
- To explore the complex cascade of secondary cellular events in MPS.
- To identify novel therapeutic targets for MPS disorders.
Main Methods:
- Review of recent literature on lysosomal biology and MPS.
- Analysis of emerging data on GAGs' biological roles.
- Integration of new insights into lysosomal function and cellular signaling.
Main Results:
- MPS pathophysiology involves a complex cascade of secondary cellular dysfunctions.
- These include altered membrane composition, impaired vesicle trafficking, secondary substrate storage, and autophagy defects.
- Impaired mitochondrial function, oxidative stress, and dysregulated signaling pathways are also implicated.
Conclusions:
- MPS manifestations result from a complex interplay of secondary cellular events, not just GAG accumulation.
- Understanding these secondary pathways is crucial for comprehending MPS clinical features.
- These pathways represent promising targets for developing innovative MPS therapies.
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