Basic research

Basic research can be done with animals, cells growing in a dish, or test tubes.

Some researchers have reproduced the problems of Lesch-Nyhan disease in animals. In one case, researchers made a mouse with the same kind of error in the hprt gene as Lesch-Nyhan disease. In another case, researchers made a rat that showed the same kind of self-injurious behaviors that occurs in Lesch-Nyhan disease. A lot has been learned about the consequences of the hprt gene error in the mice, and the reasons why the rats bite themselves.

Valuable basic research also has been done with cells that have the same kind of error in the hprt gene as Lesch-Nyhan disease. These cells are being used to examine what is going on inside to make them sick. A relatively newer area of research involves computer modeling of the HPRT protein, and predictions of its functions as they may relate to Lesch-Nyhan disease.