The disease destroys cells in the basal ganglia, the part of the brain that controls movement, emotion, and cognitive ability. HD is caused by a mutation in a gene on chromosome 4. The job of its protein product, huntingtin, is to direct the delivery of small packages (vesicles containing important molecules) to the outside of the cell. Normally, the coding region of this gene contains the DNA sequence “CAG” repeated again and again. The number of times this triplet is repeated varies from person to person, ranging from 10 to 26 times. People with HD have an abnormally high number of these CAG triplets, approximately 40 or more. This likely disrupts the function of the gene’s protein product, but how the expansion of the CAG repeat causes disease is unknown. Somehow the brain cells of HD patients accumulate clumps of protein that become toxic, resulting in cell death. Some patients lose more than 25% of their brain cells before they die.
Huntington’s disease is inherited in an autosomal dominant pattern. This means that everyone who inherits the faulty gene will eventually get the disease. A parent with a mutation in the HD gene has a 50 percent chance of passing on the disease to their children.
The symptoms of Huntingtons disease includes harsh movements, mood sways and loss of memory. While commenting on the Huntington’s disease Dr. Carolyn said, “It gets to the point where they can be in a nursing facility where they have significant impairments in their ability to care for themselves.”
Huntingtons disease affects muscle harmonization and results in mental weakness. According to doctors Huntingtons disease mostly becomes obvious in middle age.
The starting symptoms of Huntingtons disease includes lack of coordination and an shaky steps. As the Huntingtons disease increases to advance level movements with jerk in body become prominent and cognitive abilities and attitudes start changing.
Community based organizations have been serving to increase awareness among the population regarding Huntingtons disease. They are set to offer support for individuals suffering from Huntington’s disease. They also aim to increase research works about Huntington’s disease.