Recent trends in mucopolysaccharidosis research
Mucopolysaccharidosis (MPS) is a group of inherited conditions involving metabolic dysfunction. Lysosomal enzyme deficiency leads to the accumulation of glycosaminoglycan (GAG) resulting in systemic symptoms, and is categorized into seven types caused by deficiency in one of eleven different enzymes...
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| Veröffentlicht in: | Journal of human genetics 2019-02, Vol.64 (2), p.127-137 |
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| container_title | Journal of human genetics |
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| creator | Kobayashi, Hiroshi |
| description | Mucopolysaccharidosis (MPS) is a group of inherited conditions involving metabolic dysfunction. Lysosomal enzyme deficiency leads to the accumulation of glycosaminoglycan (GAG) resulting in systemic symptoms, and is categorized into seven types caused by deficiency in one of eleven different enzymes. The pathophysiological mechanism of these diseases has been investigated, indicating impaired autophagy in neuronal damage initiation, association of activated microglia and astrocytes with the neuroinflammatory processes, and involvement of tauopathy. A new inherited error of metabolism resulting in a multisystem disorder with features of the MPS was also identified. Additionally, new therapeutic methods are being developed that could improve conventional therapies, such as new recombinant enzymes that can penetrate the blood brain barrier, hematopoietic stem cell transplantation with reduced intensity conditioning, gene therapy using a viral vector system or gene editing, and substrate reduction therapy. In this review, we discuss the recent developments in MPS research and provide a framework for developing strategies. |
| doi_str_mv | 10.1038/s10038-018-0534-8 |
| format | Article |
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Lysosomal enzyme deficiency leads to the accumulation of glycosaminoglycan (GAG) resulting in systemic symptoms, and is categorized into seven types caused by deficiency in one of eleven different enzymes. The pathophysiological mechanism of these diseases has been investigated, indicating impaired autophagy in neuronal damage initiation, association of activated microglia and astrocytes with the neuroinflammatory processes, and involvement of tauopathy. A new inherited error of metabolism resulting in a multisystem disorder with features of the MPS was also identified. Additionally, new therapeutic methods are being developed that could improve conventional therapies, such as new recombinant enzymes that can penetrate the blood brain barrier, hematopoietic stem cell transplantation with reduced intensity conditioning, gene therapy using a viral vector system or gene editing, and substrate reduction therapy. 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In this review, we discuss the recent developments in MPS research and provide a framework for developing strategies.</description><subject>Animals</subject><subject>Antigens</subject><subject>Astrocytes</subject><subject>Autophagy</subject><subject>Blood-brain barrier</subject><subject>Brain stem</subject><subject>Cell cycle</subject><subject>Combined Modality Therapy</subject><subject>Diagnosis, Differential</subject><subject>Disease</subject><subject>Enzyme Replacement Therapy</subject><subject>Enzymes</subject><subject>Gene expression</subject><subject>Gene therapy</subject><subject>Genetic Association Studies</subject><subject>Genetic disorders</subject><subject>Genetic Therapy</subject><subject>Genome editing</subject><subject>Genomes</subject><subject>Genotype & phenotype</subject><subject>Glycosaminoglycans</subject><subject>Hematopoietic Stem Cell Transplantation</subject><subject>Hematopoietic stem cells</subject><subject>Heparan sulfate</subject><subject>Humans</subject><subject>Inflammation</subject><subject>Metabolic disorders</subject><subject>Metabolism</subject><subject>Microglia</subject><subject>Mucopolysaccharidoses - 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Lysosomal enzyme deficiency leads to the accumulation of glycosaminoglycan (GAG) resulting in systemic symptoms, and is categorized into seven types caused by deficiency in one of eleven different enzymes. The pathophysiological mechanism of these diseases has been investigated, indicating impaired autophagy in neuronal damage initiation, association of activated microglia and astrocytes with the neuroinflammatory processes, and involvement of tauopathy. A new inherited error of metabolism resulting in a multisystem disorder with features of the MPS was also identified. Additionally, new therapeutic methods are being developed that could improve conventional therapies, such as new recombinant enzymes that can penetrate the blood brain barrier, hematopoietic stem cell transplantation with reduced intensity conditioning, gene therapy using a viral vector system or gene editing, and substrate reduction therapy. 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| subjects | Animals Antigens Astrocytes Autophagy Blood-brain barrier Brain stem Cell cycle Combined Modality Therapy Diagnosis, Differential Disease Enzyme Replacement Therapy Enzymes Gene expression Gene therapy Genetic Association Studies Genetic disorders Genetic Therapy Genome editing Genomes Genotype & phenotype Glycosaminoglycans Hematopoietic Stem Cell Transplantation Hematopoietic stem cells Heparan sulfate Humans Inflammation Metabolic disorders Metabolism Microglia Mucopolysaccharidoses - diagnosis Mucopolysaccharidoses - etiology Mucopolysaccharidoses - metabolism Mucopolysaccharidoses - therapy Mucopolysaccharidosis Neurodegenerative diseases Phagocytosis Phenotype Prevalence Stem cell transplantation Tau protein Trends |
| title | Recent trends in mucopolysaccharidosis research |
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