Treatment

As previously mentioned, soluble lysosomal enzymes are synthesized in the trans Golgi network and transported via mannose-6-phosphate receptors to the lysosome. Research into the process has enabled this sorting mechanism to be utilized to target recombinantly expressed replacement enzyme to deficient lysosomes. This treatment is now available for some lysosomal storage disorders, such as Fabry and MPS I, but recombinant enzyme is unable to cross the blood-brain barrier. As neurological disease is the major symptom in Sanfilippo patients, this form of treatment is unsuitable. Bone marrow transplantation has been performed in a few Sanfilippo A and B patients but has proven unsuccessful, even when carried out before development of clinical symptoms.[22] Gene therapy is currently being investigated using a variety of viral vectors and a number of animal models exist for Sanfilippo A and B including mice (IIIA, IIIB), dogs (IIIA, IIIB), and emu (IIIB). Such models can be used to investigate different viral vectors and different methods of delivery such as direct injection into the brain. However, many problems need to be overcome before gene therapy becomes a viable form of treatment for single gene disorders. One of the major problems of introducing recombinant enzyme, however it is produced, into patients that have no functional enzyme is the immunological response to the ''foreign'' protein. This may be worse in those patients who have no cross-reactive material. Most patients with missense mutations will probably produce full-length protein that is nonfunctional, so will not develop antibodies to the recombinant protein. Therefore it is a prerequisite that the genotype of all patients undergoing treatment is known. At present, the only form of treatment for Sanfilippo patients is palliative care.

Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

Get My Free Ebook


Post a comment