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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.

Source: PIB

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