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Related Concept Videos

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Glycans, a class of complex heterogeneous molecules, can be covalently attached to proteins to form glycosylated proteins that regulate various physiological and pathological processes. Glycosylated proteins or glycoproteins comprise N-linked and O-linked oligosaccharides. O-glycosylation is the most common type of protein glycosylation. Here, glycans attach to the oxygen atom of the hydroxyl groups of Serine or Threonine residues. O-linked glycosylation occurs later in protein processing,...
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Protein glycosylation starts in the ER lumen and continues in the Golgi apparatus. Glycosyltransferases catalyze the addition of sugar molecules or glycosylation of proteins. Usually, these enzymes add sugars to the hydroxyl groups of selected serine or threonine residues to form O-linked glycans or the amino groups of asparagine residues to form N-linked glycans. Different positions on the same polypeptide chain can contain differently linked glycans.
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Antibody Binding Specificity for Kappa (V&#954;) Light Chain-containing Human (IgM) Antibodies: Polysialic Acid (PSA) Attached to NCAM as a Case Study
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Mucopolysaccharidosis type I.

J E Wraith, Simon Jones

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    |October 28, 2014
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    Summary
    This summary is machine-generated.

    Mucopolysaccharidosis type I (MPS I) is a genetic disorder resulting from a deficiency in a-L-Iduronidase. Treatments like HSCT and ERT show variable success, with gene therapy offering future promise for skeletal outcomes.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Background:

    • Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder caused by alpha-L-iduronidase deficiency.
    • This deficiency leads to the accumulation of glycosaminoglycans (GAGs), specifically dermatan sulfate and heparan sulfate.
    • MPS I presents a spectrum of severity, including Hurler disease (severe, CNS involvement), Scheie disease (chronic, no CNS involvement), and Hurler/Scheie disease (intermediate).

    Purpose of the Study:

    • To review the current understanding of Mucopolysaccharidosis type I (MPS I), its clinical manifestations, and treatment modalities.
    • To highlight diagnostic approaches, including urine GAG patterns and enzyme assays.
    • To discuss the efficacy and limitations of existing treatments like Hematopoietic Stem Cell Transplantation (HSCT) and Enzyme Replacement Therapy (ERT), and explore emerging gene therapy strategies.

    Main Methods:

    • Review of existing literature on MPS I, encompassing clinical presentations, diagnostic criteria, and treatment outcomes.
    • Analysis of genotype-phenotype correlations, noting the poor correlation overall but specific mutations linked to Hurler disease.
    • Examination of the impact of HSCT and ERT on various MPS I symptoms and disease progression.

    Main Results:

    • Diagnostic confirmation relies on urine GAG patterns and alpha-L-iduronidase enzyme assays, with over 200 mutations identified.
    • HSCT can stabilize cognitive impairment in Hurler disease if performed before age two, improving visceral symptoms but not skeletal or cervical instability.
    • ERT with laronidase improves GAG excretion, cardiac function, and respiratory parameters but does not resolve skeletal, dural, or ocular manifestations.

    Conclusions:

    • While HSCT and ERT offer benefits for MPS I, they have limitations, particularly for skeletal and connective tissue manifestations.
    • Gene therapy, including ex vivo approaches using stem cells, shows promise for improving skeletal outcomes in animal models and may offer future therapeutic avenues.
    • Continued research into novel therapies is crucial for addressing the multifaceted challenges of MPS I across its disease spectrum.