Huntington’s disease

A new study, recently published in the in Scientific Reports, throws light on progresses of Huntington’s disease at the molecular level.

About Huntington’s disease

• Huntington’s disease (HD) is an inherited disorder that causes nerve cells (neurons) in parts of the brain to gradually break down and die. The disease attacks areas of the brain that help to control voluntary (intentional) movement, as well as other areas.

• The Huntington’s disease is caused by a mutated version of a gene called HTT. The HTT gene codes for a protein called huntingtin, or Htt.

• Nerve cells in the human body require the Htt protein for their normal functioning and survival. The mutated gene, however, encodes an abnormal Htt protein that instead destroys the neurons that regulate movement, thinking, and memory.

• At first, Huntington’s disease patients have mild symptoms: forgetfulness, loss of balance, and clumsiness in performing simple tasks. The symptoms begin in the ages 30-50, by when the patient might also have had children.

• The condition progressively worsens. The patient suffers mood swings, has difficulty in reasoning, shows abnormal and uncontrollable jerky movements, and experiences difficulty in speaking, swallowing, and walking. The patient eventually dies.

• There is no cure.

• Each one of us has two copies of the HTT gene: one we inherited from the father and one from the mother. The disease is triggered even if only one copy of the gene is mutated while the other is normal. That is, the mutant gene is said to be dominant to its normal counterpart.