Lysosomal storage diseases and the blood-brain barrier

DJ Begley, CC Pontikis… - Current pharmaceutical …, 2008 - ingentaconnect.com
DJ Begley, CC Pontikis, M Scarpa
Current pharmaceutical design, 2008ingentaconnect.com
The blood-brain barrier becomes a crucial issue in neuronopathic lysosomal storage
diseases for three reasons. Firstly, the function of the blood-brain barrier may be
compromised in many of the lysosomal storage diseases and this barrier dysfunction may
contribute to the neuropathology seen in the diseases and accelerate cell death. Secondly,
the substrate reduction therapies, which successfully reduce peripheral lysosomal storage,
because of the blood-brain barrier may not have as free an access to brain cells as they do …
The blood-brain barrier becomes a crucial issue in neuronopathic lysosomal storage diseases for three reasons. Firstly, the function of the blood-brain barrier may be compromised in many of the lysosomal storage diseases and this barrier dysfunction may contribute to the neuropathology seen in the diseases and accelerate cell death. Secondly, the substrate reduction therapies, which successfully reduce peripheral lysosomal storage, because of the blood-brain barrier may not have as free an access to brain cells as they do to peripheral cells. And thirdly, enzyme replacement therapy appears to have little access to the central nervous system as the mannose and mannose-6-phosphate receptors involved in their cellular uptake and transport to the lysosome do not appear to be expressed at the adult blood-brain barrier. This review will discuss in detail these issues and their context in the development of new therapeutic strategies.
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