This year marks the 20th anniversary of the discovery of the gene that causes Huntington’s disease. Today, Huntington’s disease genetic testing is relatively simple, involving a small blood sample. The test looks for the number of CAG repetitions on chromosome number four.
According to the Huntington’s Disease Society of America, “Each of us carries the huntingtin gene - in fact we carry two copies of it: one from mom, and one from dad. The huntingtin gene has a section that varies naturally from person to person - a region made up of repeating 'CAG' triplets. (C, A, G and T are letters used to represent the four chemical building blocks strung together to form the DNA from which genes are made). Most people have about 15-25 CAG repeats in each copy of the gene. However, if a person has a huntingtin gene with more than 36 repeats, they will develop Huntington's disease at some point in their life. That's because large CAG repeats tell our cells to make a version of the huntingtin protein that's harmful. It's possible to find out exactly how many repeats an individual has in each of their huntingtin genes - and this is the basis for genetic testing.”
For a list of Huntington disease genetics testing centers, visit the Huntington's Disease Society of America.
Because Huntington’s disease affects the entire family, Huntington’s Hope raises post-secondary education scholarship money for the children of parents with Huntington’s disease. The organization hopes to raise $1 million in 2013 with 100 percent of Huntington’s disease donations going directly into an endowment fund to create these scholarships.
To help, please DONATE NOW.
Good Samaritan Society – Specialty Care Community in Robbinsdale, Minn., owned and operated by the Evangelical Lutheran Good Samaritan Society, is one of only eight long-term skilled care centers in the United States with a dedicated program for individuals with Huntington’s disease.