Arizain St Paul

BIO 216 Assignment

Write a short description of Huntington’s disease. (Include how it is inherited.)

Huntington’s disease or Huntington's chorea is a genetic disease characterized by the

degeneration of nerve cells in the brain. It is a rare disease believed to affect 3 to 7 persons for
every 100,000 people of European descent: it is less common among other ethnicities. The
portion of the brain affected is called the basal ganglia, which controls voluntary movement,
procedural learning, habit learning, cognition, and emotion. As a result of this, symptoms of
Huntington’s disease can include difficulty concentrating and memory lapses, depression,
involuntary jerking or fidgety movements of the limbs and body (known as chorea), mood
swings and personality changes and difficulty moving. The symptoms usually occur during 30 to
50 years of age, with the disease being fatal after 15 to 30 years of the onset of symptoms. There
are treatment options available like physiotherapy and antidepressants but currently no cure.
A mutation in the HTT gene is responsible for inheritance of the disease. The HTT gene
codes for instructions to make a protein called huntingtin. The role of the protein is not exactly
known, however, it is believed that it aids the development of neurons in the brain. A normal
HTT gene contains the DNA sequence ‘CAG (cytosine-adenine-guanine) trinucleotide repeat’
where the sequence is repeated 10 to 35 times within the gene. In persons with Huntington’s
disease, the sequence can be repeated 36 to over 120 times. People with 36 to 39 CAG repeats
may or may not develop the symptoms of Huntington disease, while people with 40 or more
repeats almost always develop the disorder. The gene for the disease is dominant so inheriting
only one defective gene will leave the individual affected. There is a 50 percent chance that a
child with an affected parent, only one defective HTT gene, will inherit the disease. In rare
situations where both parents have a defective gene, the risk increases to 75 percent, and when
either parent has two mutated copies, the risk of offspring inheritance is 100 percent. However,
individuals with both genes affected are rare.