Huntington's disease is a pathology caused by a mutation in the HTT gene located on the short arm of chromosome 4. This gene codes for a protein known as Huntingtin which is involved in various cellular processes as well as in embryonic development. In addition, this protein is expressed in the nervous system.
When this gene has less than 27 CAG triplet repeats it is correct. However, if a mutation were to occur, the number of CAG repeats would increase. When the CAG triplet of the HTT gene repeats more than 35 times is when Huntington's disease develops.
Read the full article on: What is Huntington’s disease and can it be prevented with PGD? ( 40).
By John Peay Pinacho M.D. (gynaecologist), Marta Barranquero Gómez B.Sc., M.Sc. (embryologist) and Sergio Rogel Cayetano M.D. (gynecologist).
Last Update: 10/26/2023
