UPSC Exam Preparation: Topic of the Day – Huntington’s Disease

UPSC Exam Preparation: Topic of the Day – Huntington’s Disease

Huntington’s disease is an autosomal dominant genetic disorder. It is also known as Huntington’s Chorea and results in the progressive death of brain cells. An autosomal genetic disorder means that even if one parent carries the defective Huntington’s gene, their offspring has a 50:50 chance of inheriting the disease.

 

Treatment for Huntington’s Disease

  • There is no treatment or cure for Huntington’s Disease at the present. Afflicted individuals lose their ability to walk, talk, think and reason. This disease begins between ages 30 years and 45 years.
  • The disease has a broad impact on a person’s functional abilities and usually results in movement, thinking (cognitive) and psychiatric disorders.

 

Movement disorders

  • Muscle problems, such as rigidity or muscle contracture (dystonia)
  • Slow or abnormal eye movement

 

Cognitive disorders

  • Difficulty organizing, prioritizing or focusing on tasks
  • Lack of flexibility or the tendency to get stuck on a thought, behavior or action (perseveration)
  • Lack of impulse control that can result in outbursts, acting without thinking and sexual promiscuity
  • Lack of awareness of one’s own behaviors and abilities
  • Slowness in processing thoughts or ”finding” words
  • Difficulty in learning new information

 

Psychiatric disorders

  • Feelings of irritability, sadness or apathy
  • Social withdrawal
  • Insomnia
  • Fatigue and loss of energy
  • Frequent thoughts of death, dying or suicide

 

Insulin signalling could slow the disease’s progression

  • A study by researchers at the Department of Genetics, Delhi University, South Campus, has shown that it is possible to restrict the progression of Huntington’s disease by increasing insulin signalling in the brain’s neuronal cells.
  • Increasing the level of insulin signaling enriches the cellular pool of proteins that are essential for cellular functioning and survival. This, in turn, restores the cellular transcription machinery.
  • It appears that enhanced level of insulin signaling rejuvenates the neuronal cells which are otherwise stressed during disease condition.

 

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