A key cellular mechanism in Huntington Disease unravelled
New Delhi, March 21, 2020
A key cellular mechanism in Huntington Disease has been unravelled by a team of scientists from the National Centre for Cell Science (NCCS) in Pune led by Dr Amitabha Majumdar.
Huntington 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. They provide the instruction for making the protein.
When the genes mutate, they provide faulty instructions leading to the production of abnormal huntingtin proteins and 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 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.
An official press release said the scientists team at NCCS had been working to gain insights by studying the HTT gene in fruit flies. They observed that the pathogenic Huntingtin protein causes a decrease in the overall protein production in cells.
The Huntingtin clumps collect together (sequester) molecules of another protein called Orb2, which is involved in the process of protein formation.