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Huntingtin disease
March 23 , 2020
1582 days
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- A team of scientists from National Centre for Cell Science (NCCS) in Pune have observed that the pathogenic Huntingtin protein causes a decrease in the overall protein production in cells.
- Huntingtin disease is a progressive genetic disorder.
- It affects the brain and 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 gene(huntingtin gene).
- 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 production of abnormal huntingtin proteins and these form into clumps.
- v The clumps disrupt the normal functioning of the brain cells, which eventually leads to death of neurons in the brain, resulting in Huntington disease.
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