Huntington chorea: Genetika és biokémia, diagnosztika és terápia

Huntington chorea (HC) is a serious neurodegenerative disease. Its genetic background has recently been discovered by positional cloning due to the enormous progress in molecular biology. This disease is caused by the mutation of CAG, a changeable, repetitive Citosin-Adenin-Guanin trinucleotide sequence. The protein coded by this sequence is called huntingtin. The role of huntingtin is known neither in mutant nor in normal proteins, despite several hypotheses on this matter. Nevertheless, in connection with the number of the CAG repeat many regularities have been proved which can be used in diagnosis and also in prediction of the disease. The latter is of great importance since the treatment of HC is still limited to symptomatic therapies, however numerous therapeutical approaches are being observed. in the future, real treatment of this disease is expected from gene therapy. Until the application of this method, the most effective approach is prevention, on the basis of genetic counseling.