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(GIST OF SCIENCE REPORTER) Huntington’s Disease
(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