Science & Technology
Huntington Disease
- 21 Mar 2020
- 3 min read
Why in News
A team of scientists from the National Centre for Cell Science (NCCS), Pune studied the HTT gene in fruit flies.
- Mutations in the HTT gene (also called Huntington or HD gene) cause Huntington Disease (HD).
Huntington Disease
- Huntington Disease (HD) is a progressive genetic disorder which affects the brain.
- It 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.
- The HTT genes are involved in the production of a protein called huntingtin. They provide the instruction for making the protein.
- Mutated genes provide faulty instructions leading to production of abnormal huntingtin proteins and formation of clumps.
- These clumps disrupt the normal functioning of the brain cells, which eventually leads to death of neurons in the brain, resulting in Huntington disease.
- No cure exists, but drugs, physiotherapy and talk therapy can help manage some symptoms.
Key Findings
- In the study on fruit flies, it was 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 also involved in the process of protein formation.
- Orb2 protein is crucial for maintenance of memory in fruit flies.
- In humans, a family of proteins called CPEB is equivalent to the Orb2 protein in fruit flies.
- Further studies found that the CPEB proteins are also sequestered by the pathogenic Huntingtin clumps, similar to the Orb2 protein molecules.
- The study, thus, becomes relevant to and valuable in understanding HD in humans.
National Centre for Cell Science
- It is a national level, biotechnology, tissue engineering and tissue banking research center located at Savitribai Phule Pune University, Pune.
- It is one of the premier research centers in India, which works on cell-culture, cell-repository, immunology, chromatin-remodelling.
