Huntingtin Disease

Context:

A team of scientists from the National Centre for Cell Science (NCCS) observed that the pathogenic Huntingtin protein causes a decrease in the overall protein production in cells.

About:

• Huntington’s disease (HD) is a progressive genetic disorder affecting the brain that causes uncontrolled movements, impaired coordination of balance and movement, a decline in cognitive abilities, difficulty in concentrating and memory lapses, mood swings, and personality changes.
• It is caused by a mutation in a gene called HTT. The HTT genes are involved in the production of a protein called huntingtin.
• HTT genes provide the instruction for making the protein. When the genes mutate, they provide faulty instructions leading to the production of abnormal huntingtin proteins these form into clumps.
• The clumps disrupt the normal functioning of the brain cells, which eventually leads to the death of neurons in the brain, resulting in Huntington’s disease.
• While it is known that the clumps formed by the abnormal huntingtin protein disrupt several cellular processes, it is not known whether they also influence the key process in the formation of other proteins in the cell.