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Mucopolysaccharidosis

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Molecular and Cell Biology of Human Gene Therapeutics

Part of the book series: Molecular and Cell Biology of Human Diseases Series ((Mol. Cell Biol. Hu. Dis.,volume 20))

Abstract

Most of the digestion process in the living cell takes place in the lysosome. These organelles are formed in the trans Golgi network, from vesicles in which more than 40 different enzymes, mostly acid hydrolases, are selectively packed. The mature lysosome results from a fusion between these enzyme-containing vesicles and late endosomes where macromolecules awaiting disposal are entrapped. The acid pH maintained within the lysosome activates the enzymes such that proteins, nucleic acids and complex sugars are degraded. A deficiency in one of these digestive enzymes results in the toxic accumulation of its undegraded substrate. This ‘cellular dyspepsia’ (De Duve, 1964) results in a lysosomal storage which can severely impair the physiology of the cell.

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Authors
  1. Olivier Danos
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  2. Jean-Michel Heard
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Editors and Affiliations

  1. Department of Biochemistry, Royal Holloway, University of London, Egham, Surrey, TW20 0EX, UK

    George Dickson

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Danos, O., Heard, JM. (1995). Mucopolysaccharidosis. In: Dickson, G. (eds) Molecular and Cell Biology of Human Gene Therapeutics. Molecular and Cell Biology of Human Diseases Series, vol 20. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-0547-7_17

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  • DOI: https://doi.org/10.1007/978-94-011-0547-7_17

  • Publisher Name: Springer, Dordrecht

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