New Research Shows Promise of Sufferers of Tay-Sachs and Similar Disorders

The latest research from the Children's Hospital of Philadelphia and the University of Pennsylvania shows some hope for developing gene therapy treatments for congenital disorders like Tay-Sachs disease.

Their research targeted a location in a mouse brain that is connected to many other areas in the brain, and by delivering a beneficial gene to just this one part, they the gene was spread to the entire brain. If it is found to be possible to replicate the procedure in humans, they feel it could be an answer to treating Tay- Sachs and other rare congenital human neurological disorders.

The mice used in the study were specially bred to have one of the nuerogenetic disease by the name of mucopolysaccharidosis type VII, in short MPS VII. It is also called Sly syndrome, and in humans is a rare, multisystem disease that can cause mental retardation and death or in young adults.

This in only one of about 60 different disorders that form a group called lysosomal storage diseases. This group is responsible for causing disabilities in about one out of every 5,000 births. They are a major cause of childhood mental retardation as well as very severe and in many cases fatal disabilities. In every one of these diseases, there is a defect in just one specific gene that works to disrupt the production of an enzyme whose job is to clean up the waste products from the cells. Then the debris from the cells builds up inside the lysosomes, which are cell storage sites. When the waste builds up, it interferes with the basic functions of the cells. Some of the other diseases in this group are Tay-Sachs disease, Hunter disease and Pompe disease.

In some variations of one of the diseases, called Gaucher disease, they can replace the missing enzyme and relieve the symptoms of the disorder, but this is the exception and not the rule in this group of disorders. In most of the others, enzyme replacement is not very effective.