A gene therapy approach to childhood parkinsonism

Infantile parkinsonism is a severe progressive disease that is incurable and children affected die in adolescence. It begins in infancy with features similar to adult Parkinsons disease with severe difficulties with movement and unsteadiness. The faulty gene that causes this condition has been identified and its function understood. This makes it a potential condition that could be treated by gene therapy as no other treatments have worked or helped so far. The faulty gene is responsible for producing proteins involved in transporting a chemical in the brain that controls movements. In this condition the protein does not work effectively leading the severe movement difficulties and death in adolescence. I will research ways to deliver a normal form of the gene to a mouse model with the disease. An animal study is required as it is not safe to study these techniques directly in humans. There is a mouse model that simulates the human from of infantile parkinsonism condition well. This mouse does not produce any of form of the protein and shows all the signs with movement difficulties and reduced longevity seen in the human form of the condition. We would aim to give the mouse the normal gene through an injection into the blood stream. We would assess for improvements in movements, weight gain and lifespan to assess whether the gene treatment has helped. We would assess carefully for side effects and ability for the gene treatment to reach the brain in the mouse, the area where we want the treatment to work. We would study the mice to see if the normal function of the gene is restored and would see this with improvements in movements and longevity of the mice. We would assess the mice to ensure the gene treatment is safe and effective and assess the best age to give the treatment and ideal dosage. Further studies of the effects of the gene treatment will be performed by assessing tissue samples from the mice. Successful gene therapy study in mice will help us to proceed to establish future studies in humans. In the future these techniques may also be applicable to other incurable childhood brain disorders.