(GIST OF SCIENCE REPORTER) Huntington’s Disease

(FEBRUARY-2024)

Huntington’s Disease

• The medical genetics clinic in the Nizam’s Institute of Medical Sciences, Hyderabad, sees three or four people with Huntington’s disease. 

About Huntington’s disease (HD)

• Huntington’s disease is a rare and incurable hereditary disorder that damages brain cells. 
• Early signs include coordination problems and memory lapses. 
• It happens when a gene mutation causes toxic proteins to collect in different parts of the brain. 
• It leads to symptoms that may impact movement, behavior, and cognition.

Causes of Huntington’s disease

• HD results from a gene mutation on chromosome 4 of huntingtin (HTT). 

• This genetic mutation is caused by the excessive production (or trinucleotide repeats) of cytosine, adenine, and guanine (CAG). 
• These are three building blocks of DNA 
• Normally, CAG repeats 36 times or less.
• But, in HD it repeats 36 times or more.
• This change results in a longer form of the HTT protein, which is then cut into small harmful cells that could bind together. 
• As the toxic protein accumulates in the brain, it begins to damage certain brain cells. 

Treatment for Huntington’s disease

• HD is currently incurable. 
• Treatment cannot reverse its progression or slow it down.
• Medication and other therapies may help people manage some of their symptoms.

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Courtesy: Science Reporter