Huntingtin Protein

Scientists at the National Centre for Cell Science have published a report on the role of a pathogenic protein in causing the Huntington Disease.

Huntington Disease

Huntington Disease is a genetic disorder that affects the brain. It is a progressive disease caused due to mutation in a gene called the HTT. While there is a 50% chance that a child of an affected patient inherits the disease, it could also be caused by new mutation. It currently has no cure.

Symptoms

Some of the symptoms of HD are:

• decline in cognitive abilities
• memory lapses
• difficulty in concentrating
• mood swings
• personality changes
• impaired coordination of movement and balance
• uncontrolled movements

Abnormal Huntingtin

The HTT gene produces a protein called huntingtin. A faulty gene gives wrong instructions for the protein’s manufacture resulting in formation of abnormal huntingtin. These abnormal huntingtin proteins clump together and affect the normal brain function by killing the neurons. The scientists found that the abnormal huntingtin is also involved in disrupting the processes for formation of other proteins in the cell.