Staying Ahead of Huntington’s Disease

Staying ahead of Huntington’s disease

 Source: Washington University

WUSTL researchers look to nature for clues to combat disease

December 13, 2013
By Beth Miller
PHOTO: MACDONALD ET AL., (2003)
NEUROMOLECULAR MED. 4: 7-20
In the figure above, the open circles are data for individual patients with Huntington’s disease, and the solid circles are averages for a given CAG repeat length. Huntington’s disease is caused by a defect in the huntingtin gene (Htt) that causes an abnormal expansion in the CAG codon or triplet that codes for the amino acid glutamine. This CAG triplet expansion in unrelated genes is the root of at least nine neurodegenerative disorders, including Huntington’s disease.

Huntington’s disease is a devastating, incurable disorder that results from the death of certain neurons in the brain. Its symptoms show as progressive changes in behavior and movements. 

The neurodegenerative disease is caused by a defect in the huntingtin gene (Htt) that causes an abnormal expansion in a part of DNA, called a CAG codon or triplet that codes for the amino acid glutamine. A healthy version of the Htt gene has between 20 and 23 CAG triplets. The mutational expansion in Htt can lead to long repeats of the CAG triplet, resulting in the mutant protein having a long sequence of several glutamine residues called a polyglutamine tract. This CAG triplet expansion in unrelated genes is the root of at least nine neurodegenerative disorders, including Huntington’s disease.

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