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Indian Scientists Discover Faulty Protein That Breaks Nerve Cells Causing Rare Genetic Disorder

CC0 / / Microscope
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New Delhi (Sputnik): Huntington's disease, a rare genetic disorder, is found in three to seven people per 100,000, according to scientists in India. At present, the disease does not have any cure or treatment and the patients diagnosed with it tend to become completely dependent on others.

Indian scientists have found the faulty protein which breaks down nerve cells and thereby causes a genetic disorder called Huntington's disease. The research, published in Cellular and Molecular Life Sciences, is about a protein that disrupts the normal functioning of the brain.

A team of scientists, led by Dr Amitabha Majumdar at National Centre for Cell Science (NCCS) in Pune, has observed that a pathogenic protein Huntingtin causes a decrease in the overall protein production in cells when the Huntingtin clumps collect with molecules of another protein.

Huntington's 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, memory lapses, mood swings and personality changes.

The disease does not have any cure or treatment at present and as a result, patients become completely dependent on others for daily functioning. Individuals can also die due to secondary complications such as choking, infection, or heart failure, while children diagnosed with Huntington’s do not usually live to reach adulthood.

The Indian government does not recognise it under its National Mental Health Programme or rare disease policy, hence there are no strict guidelines about treatment or management.

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