huntington-disease-progressive-genetic-disorder

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.

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Source: PIB