Mucopolysaccharidosis (MPS) type VII (also known as Sly syndrome) is a lysosomal storage disorder (LSD) characterized by a deficiency of the lysomal enzyme beta-glucuronidase. MPS VII leads to bone and joint abnormalities, enlargement of the visceral organs, cardiovascular disease and neurologic impairment. Using a MPS VII adult animal model, researchers in the Center for Gene Therapy at Columbus Children’s Research Institute (CCRI) on the campus of Columbus Children’s Hospital have demonstrated a gene therapy strategy whereby in vivo administration into the liver of a recombinant adeno-associated virus (rAAV) type 2 vector is capable of reversing the progression of storage in the liver, spleen, kidney, heart, lung and, importantly, the brain. This is the first time researchers have demonstrated that the peripheral in vivo administration of a therapeutic gene leads to improvement in the brain of an adult MPS VII animal model. The findings were published in the September issue of Molecular Therapy.
Previous work has shown that similar therapies are effective in treating the brain if administered soon after birth, but until now, it was believed that the blood-brain barrier would prevent this occurrence during adulthood.
“It’s not clearly understood why in newborns, the blood-brain barrier is ‘open,’ and as a person matures, very few substances can cross through this barrier,” said Thomas J. Sferra, M.D., gastroenterologist and associate professor at The Ohio State University College of Medicine and Public Health. “In our study, we were able to show an improvement in the manifestations of this disease within the brain. Now that we have proven that this type of therapy can overcome the blood-brain barrier, we can begin to study how this occurred. In the long-term, we have the potential to apply this type of therapy to a majority of the LSDs and even other disorders.”
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