|MadSci Network: Cell Biology|
Lysosomal diseases result from deficiency of one of the many enzymes involved in the normal, step-wise breakdown of macromolecules. Some of the causes of lysosomal storage diseases are: a) a deficiency of a lysosomal enzyme or sub- unit thereof, b) the deficiency of a protein assisting one or more lysosomal enzymes in their catalytic function by activation and/or stabilization, or by substrate presentation, c) the deficiency or dysfunction of a lysosomal membrane carrier protein essential for the export of degradation products from the lysosomal interior to the cytoplasm, or d) defective targeting of lysosomal proteins to the lysosomes. Studies in vitro have shown that cells from enzyme-deficient patients can be corrected by addition of the missing enzyme. Advances in gene therapy are likely to improve the successful treatment of lysosomal disorders by facilitating the large scale production of clinically effective proteins and also by enabling the stable and safe introduction of normal lysosomal genes into cells of affected patients.
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