Huntington Disease
Huntington disease is found on the gene Huntington. This gene’s official symbol is HHT. Huntington disease causes degeneration in the brain.
HTT Gene |
The HTT gene provides information for making a protein called huntingtin. Even though, the exact function is unknown, the protein appears to play an important role in nerve cells in the brain. Huntingtin is found in many of the body’s tissues, especially in the brain. Within the cell the protein may also be involved in chemical signalling, moving materials, attaching to proteins and protecting the cell from self-destruction.
|
CAG Repetition |
Huntington disease is caused by mutation in the HHT gene. The mutation that causes Huntington is known as a CAG trinucleotide repeat expansion. Normally, in the HHT gene, the CAG pattern is repeated 10 to 35 times. However, if the pattern is repeated more than 36, people have Huntington disease. However people with 27 to 35 CAG patterns, do not develop the disease but are at the risk of passing it on to their offspring. The expanded pattern affects regions of the brain that assist with coordinate movement and control thinking and emotions.
|