Neurodegeneration and aging pathways in Mucopolysaccharidosis IIIB
Mucopolysaccharidosis type IIIB (MPS IIIB), or Sanfilippo Syndrome type B, is a lysosomal storage disorder caused by mutations in the NAGLU gene, which encodes the enzyme alpha-N-acetylglucosaminidase, responsible for the degradation of heparan sulfate. Progressive accumulation of undegraded glycosa...
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Open Exploration Publishing Inc.
2025-07-01
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| Series: | Exploration of Neuroscience |
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| Online Access: | https://www.explorationpub.com/uploads/Article/A1006103/1006103.pdf |
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| author | Yorran Hardman Araújo Montenegro |
| author_facet | Yorran Hardman Araújo Montenegro |
| author_sort | Yorran Hardman Araújo Montenegro |
| collection | DOAJ |
| description | Mucopolysaccharidosis type IIIB (MPS IIIB), or Sanfilippo Syndrome type B, is a lysosomal storage disorder caused by mutations in the NAGLU gene, which encodes the enzyme alpha-N-acetylglucosaminidase, responsible for the degradation of heparan sulfate. Progressive accumulation of undegraded glycosaminoglycans primarily affects the central nervous system, resulting in severe neurodegeneration. Cellular findings reveal impaired intracellular trafficking, especially within the Golgi apparatus, linked to GM130 depletion and accumulation of GM2 and GM3 gangliosides. Endocytic vesicles fail to properly fuse with lysosomes due to genetic defects, disrupting lysosomal degradation. This contributes to oxidative stress, mitochondrial dysfunction, and mitophagy failure, which collectively drive neuronal apoptosis. MPS IIIB shares pathways with Alzheimer’s and Parkinson’s, suggesting cellular aging processes. Given the lack of specific treatment, modulation of inflammatory pathways such as TLR4 emerges as a potential therapeutic strategy. |
| format | Article |
| id | doaj-art-7cc2e72e1aeb44a089514ff69a8e22b7 |
| institution | Kabale University |
| issn | 2834-5347 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Open Exploration Publishing Inc. |
| record_format | Article |
| series | Exploration of Neuroscience |
| spelling | doaj-art-7cc2e72e1aeb44a089514ff69a8e22b72025-08-20T03:34:09ZengOpen Exploration Publishing Inc.Exploration of Neuroscience2834-53472025-07-014100610310.37349/en.2025.1006103Neurodegeneration and aging pathways in Mucopolysaccharidosis IIIBYorran Hardman Araújo Montenegro0https://orcid.org/0000-0002-0684-1818MPS Brazil Network, Hospital de Clínicas de Porto Alegre, Porto Alegre 90410-000, BrazilMucopolysaccharidosis type IIIB (MPS IIIB), or Sanfilippo Syndrome type B, is a lysosomal storage disorder caused by mutations in the NAGLU gene, which encodes the enzyme alpha-N-acetylglucosaminidase, responsible for the degradation of heparan sulfate. Progressive accumulation of undegraded glycosaminoglycans primarily affects the central nervous system, resulting in severe neurodegeneration. Cellular findings reveal impaired intracellular trafficking, especially within the Golgi apparatus, linked to GM130 depletion and accumulation of GM2 and GM3 gangliosides. Endocytic vesicles fail to properly fuse with lysosomes due to genetic defects, disrupting lysosomal degradation. This contributes to oxidative stress, mitochondrial dysfunction, and mitophagy failure, which collectively drive neuronal apoptosis. MPS IIIB shares pathways with Alzheimer’s and Parkinson’s, suggesting cellular aging processes. Given the lack of specific treatment, modulation of inflammatory pathways such as TLR4 emerges as a potential therapeutic strategy.https://www.explorationpub.com/uploads/Article/A1006103/1006103.pdfmucopolysaccharidosis iiibneuronal agingcellular senescenceneurodegeneration |
| spellingShingle | Yorran Hardman Araújo Montenegro Neurodegeneration and aging pathways in Mucopolysaccharidosis IIIB Exploration of Neuroscience mucopolysaccharidosis iiib neuronal aging cellular senescence neurodegeneration |
| title | Neurodegeneration and aging pathways in Mucopolysaccharidosis IIIB |
| title_full | Neurodegeneration and aging pathways in Mucopolysaccharidosis IIIB |
| title_fullStr | Neurodegeneration and aging pathways in Mucopolysaccharidosis IIIB |
| title_full_unstemmed | Neurodegeneration and aging pathways in Mucopolysaccharidosis IIIB |
| title_short | Neurodegeneration and aging pathways in Mucopolysaccharidosis IIIB |
| title_sort | neurodegeneration and aging pathways in mucopolysaccharidosis iiib |
| topic | mucopolysaccharidosis iiib neuronal aging cellular senescence neurodegeneration |
| url | https://www.explorationpub.com/uploads/Article/A1006103/1006103.pdf |
| work_keys_str_mv | AT yorranhardmanaraujomontenegro neurodegenerationandagingpathwaysinmucopolysaccharidosisiiib |