Mucopolysaccharidoses: Cellular Consequences of Glycosaminoglycans Accumulation and Potential Targets
Abstract
:1. Introduction
2. Glycosaminoglycans: Structure, Biosynthesis, and Catabolism
2.1. Glycosaminoglycans Biosynthesis
2.1.1. Keratan Sulfate
2.1.2. Heparan Sulfate (HS)
2.1.3. Chondroitin (CS) and Dermatan Sulfate (DS)
2.2. Glycosaminoglycans Degradation
3. Intracellular Organelle Impairment
3.1. Lysosomal Impairment
3.2. Autophagy Impairment
3.3. Mitochondrial Impairment
3.4. Endoplasmic Reticulum Stress
3.5. Apoptosis Activation
3.6. Immune Response Activation
4. Modulation of Altered Intracellular Pathways as a Potential Therapeutic Approach
4.1. Substrate Reduction Therapy (SRT)
4.2. Autophagy Recovery
4.3. Mitochondria and Oxidative Stress
4.4. Immune Response Modulation
5. Perspectives
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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GAG | Monosaccharides Constituents | Chemical Structure |
---|---|---|
Keratan sulfate | Galactose N-acetylglucosamine | |
Heparan sulfate | Glucuronic acid N-acetylglucosamine | |
Chondroitin sulfate | Glucuronic acid N-acetylgalactosamine | |
Dermatan sulfate | Iduronic acid N-acetylgalactosamine | |
Hyaluronan | Glucuronic acid N-acetylglucosamine |
Type (Eponym) | OMIM | Affected Gene | Clinical Characteristics | GAGs |
---|---|---|---|---|
MPS I (Hurler) | 607014 (Hurler) | IDUA | Corneal clouding, multiple dysostoses, organomegaly, cardiac disease, CNS impairment | DS and HS |
607015 (Scheie) | Corneal clouding, joint stiffness, normal CNS | DS and HS | ||
607016 (Hurler-Scheie) | Intermediate phenotype between Hurler and Scheie phenotypes | DS and HS | ||
MPS II (Hunter) | 309900 | IDS | Multiple dysostoses, organomegaly, CNS impairment | DS and HS |
MPS IIIA (Sanfilippo A) | 252900 | SGSH | CNS impairment, hyperactivity, mild somatic manifestations | HS |
MPS IIIB (Sanfilippo B) | 252920 | NAGLU | Like MPS IIIA | HS |
MPS III C (Sanfilippo C) | 252930 | HGSNAT | Like MPS IIIA | HS |
MPS IIID (Sanfilippo D) | 252940 | GNS | Like MPS IIIA | HS |
MPS IVA (Morquio A) | 253000 | GALNS | Short stature, skeletal dysplasia, corneal | KS and CS |
MPS IVB (Morquio B) | 253010 | GLB1 | Like MPS IVA | KS |
MPS VI (Maroteaux-Lamy) | 253200 | ARSB | Multiple dysostoses, corneal clouding, cardiac disease | DS |
MPS VII (Sly) | 253220 | GUSB | Multiple dysostoses, hepatosplenomegaly, mild to severe central nervous system involvement | HS, DS, and CS |
MPS IX (Natowicz) | 601492 | HYAL1 | Short stature, soft-tissue masses | HA |
MPS X | 619698 | ARSK | Short stature, coarse facial features, dysostosis multiplex, cardiac and ophthalmological abnormalities. | DS |
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Leal, A.F.; Benincore-Flórez, E.; Rintz, E.; Herreño-Pachón, A.M.; Celik, B.; Ago, Y.; Alméciga-Díaz, C.J.; Tomatsu, S. Mucopolysaccharidoses: Cellular Consequences of Glycosaminoglycans Accumulation and Potential Targets. Int. J. Mol. Sci. 2023, 24, 477. https://doi.org/10.3390/ijms24010477
Leal AF, Benincore-Flórez E, Rintz E, Herreño-Pachón AM, Celik B, Ago Y, Alméciga-Díaz CJ, Tomatsu S. Mucopolysaccharidoses: Cellular Consequences of Glycosaminoglycans Accumulation and Potential Targets. International Journal of Molecular Sciences. 2023; 24(1):477. https://doi.org/10.3390/ijms24010477
Chicago/Turabian StyleLeal, Andrés Felipe, Eliana Benincore-Flórez, Estera Rintz, Angélica María Herreño-Pachón, Betul Celik, Yasuhiko Ago, Carlos Javier Alméciga-Díaz, and Shunji Tomatsu. 2023. "Mucopolysaccharidoses: Cellular Consequences of Glycosaminoglycans Accumulation and Potential Targets" International Journal of Molecular Sciences 24, no. 1: 477. https://doi.org/10.3390/ijms24010477