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(GIST OF SCIENCE REPORTER) Huntington’s Disease

(FEBRUARY-2024)

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

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.

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.