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Which human gene is most associated with Huntington’s disease?
Quick Answer
The HTT gene is associated with Huntington’s disease. The disorder is caused by an expanded CAG repeat in this gene.
The Full Story
Huntington’s disease is caused by a mutation in the HTT gene on chromosome 4. The key problem is an abnormally long CAG repeat sequence, which leads to a toxic version of the huntingtin protein. The disease is inherited in an autosomal dominant pattern, so a child of an affected parent has a 50% chance of inheriting the mutation. Symptoms usually begin in adulthood and include movement problems, cognitive decline, and psychiatric changes.
Key Facts
1.HTT is on chromosome 4
2.It is caused by a CAG repeat expansion
3.Inheritance is autosomal dominant
YouTube Angle
Suggested video title for this topic:
"A tiny DNA repeat can cause a devastating adult-onset disease."
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