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Huntington’s Disease (HD)

Why is it in the news?

  • Scientists used genetically engineered fruit flies (Drosophila melanogaster) to probe the molecular intricacies underlying the progression of Huntington’s disease.

About Huntington’s Disease

  • HD is a genetic disorder characterized by its impact on the brain, leading to a triad of symptoms: progressive motor dysfunction, cognitive decline, and psychiatric manifestations.
  • It follows an autosomal dominant pattern of inheritance, meaning that an individual has a 50% chance of inheriting the mutated gene if one parent carries it. The disease typically manifests in mid-adulthood.
  • The root cause of HD lies in a mutation in the huntingtin (HTT) gene. This mutation results in the production of an abnormal form of the huntingtin protein.
  • The huntingtin gene (HTT) was identified in 1993, marking a crucial milestone in understanding the genetic basis of Huntington’s disease.
  • Symptoms:
  • Individuals with HD often exhibit uncontrollable jerking or writhing motions, known as chorea.
  • Difficulties in coordination and balance are common, contributing to the overall motor dysfunction.
  • The disease progresses, impacting essential functions like speech and swallowing.
  • HD affects cognitive abilities, leading to changes in thinking and reasoning.
  • Memory functions are impaired, contributing to the overall cognitive decline.
  • Individuals may experience challenges in concentrating and making decisions.
  • As of now, there is no cure for HD. Treatment strategies focus on managing symptoms to enhance the quality of life for individuals living with HD.

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