Q. What is the permanent cure of adenosine deaminase (ADA) deficiency in children?
Solution:
The first case of gene therapy was reported in 1990 at NIH. In that case, the patient was suffering from the deficiency of the enzyme adenosine deaminase caused by deletion of the gene for the respective enzyme. Deficiency of enzyme ADA can lead to the disorder called as severe combined immunodeficiency. ADA enzyme is crucial for immune system to function properly. As the patients do not have functional T-lymphocytes, so initially the lymphocytes are extracted from the bone marrow of the patient and are grown in a culture. Then, functional ADA cDNA was introduced into the cultured lymphocytes, using retroviral vector, which are reinfused into the patient's bone marrow. This is not a permanent cure because such genetically engineered lymphocytes are not immortal and a periodic infusion the such lymphocytes is required.
Its permanent treatment can only be done by introduction of a functional gene isolated from bone marrow cells, which produces functional ADA enzyme, into the cells of the patient at early embryonic stage.
Its permanent treatment can only be done by introduction of a functional gene isolated from bone marrow cells, which produces functional ADA enzyme, into the cells of the patient at early embryonic stage.