Pathogenesis (disease development)
Huntington’s disease is inherited in an autosomal dominant manner. Only 5-10% carry a spontaneous mutation as a cause.
The disease is caused by an increased repetition of the base triplet (three consecutive nucleobases of a nucleic acid) CAG within the gene HTT. This results in the production of an abnormal Huntington’s protein with significantly reduced function, which leads to neuronal cell death.
Etiology (Causes)
Biographic causes
- Genetic cause due to repetition of the consecutive nucleic bases cytosine, adenine, and guanine within the HTT gene approximately 36-250 times. In the normal population, the CAG base triplet repeats only about 16-20 times. It is true that the more repetitions of the said base triplet, the earlier the manifestation of Huntington’s disease.
- Ethnic origin of the patient – European origin.
