Huntington disease is inherited in a dominant way. This means that if a person inherits the gene mutation from one parent, they will eventually develop HD.
In 1993, researchers discovered the specific gene and mutation that leads to HD. That gene is located on chromosome 4 and is responsible for making the huntingtin protein.
Everyone has the gene that makes the huntingtin protein. Huntington disease is caused when this gene contains too many CAG repeats (a short DNA sequence that repeats itself). If the number of repeats is 40 or more, the gene is considered expanded, which leads to HD.
The mutant huntingtin protein is harmful to brain cells, especially in regions that control movement, thinking, and emotions. As these brain cells become damaged and eventually die, the symptoms of HD appear.
Huntington disease is inherited in a dominant way. This means that if a person inherits the gene mutation from one parent, they will eventually develop HD.
In 1993, researchers discovered the specific gene and mutation that leads to HD. That gene is located on chromosome 4 and is responsible for making the huntingtin protein.
Everyone has the gene that makes the huntingtin protein. Huntington disease is caused when this gene contains too many CAG repeats (a short DNA sequence that repeats itself). If the number of repeats is 40 or more, the gene is considered expanded, which leads to HD.
The mutant huntingtin protein is harmful to brain cells, especially in regions that control movement, thinking, and emotions. As these brain cells become damaged and eventually die, the symptoms of HD appear.
