The mutant huntingtin protein is cut into smaller, toxic fragments that aggregate together in neurons, causing them to dysfunction and die. However, the exact mechanisms through which this happens are not known.

How does the defective huntingtin gene cause Huntington's disease (HD) symptoms?

- The CAG DNA segment in the gene huntingtin is repeated too many times.
- The gene huntingtin is on the short arm of chromosome 4.
- Please see the image below from the U.S. National Library of Medicine for more details.

University of Michigan - Ann Arbor

- Inherited in an autosomal dominant manner (i.e., one mutant copy of the gene is enough to cause symptoms)
- CAG segment in the gene Huntington is repeated too many times, leading to the formation of an abnormal huntington protein

Genetics of Huntington's Disease

Medline Plus | U.S. National Library of Medicine

- HD is inherited in an autosomal dominant manner (i.e., one mutant copy of the gene is enough to cause symptoms).
- Inheritance is independent of gender.

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