Mouse Model For Huntington's Disease Developed By NIH, Vanderbilt

Scientists at the National Institutes of Health, in collaboration with a Vanderbilt University Medical Center neuropathologist, have genetically engineered and studied mice that mimic the behavioral and pathological changes of Huntington's disease.

The achievement holds promise as an important step in understanding the role of the Huntington's disease (HD) gene, which was discovered in 1993, and potentially in the ultimate development of treatments for the devastating neurological disorder.

The researchers report their findings in the October issue of the scientific journal Nature Genetics. The work was funded by the NIH.

"This transgenic animal appears to be the most faithful model to study Huntington's disease thus far," said co-author Dr. William Whetsell, professor of Pathology and Psychiatry at Vanderbilt. Whetsell assessed the neuropathological changes in the brains of the mice and found them to be similar to those seen in human Huntington's disease.

"The striking thing about this work is that these animals appear to be affected in what one might call a 'dose-dependent' fashion, as are patients with Huntington's disease," Whetsell said. "The greater the load, so to speak, of the abnormal gene, the more pronounced the symptoms. The course of presentation of the clinical symptoms very closely parallels that seen in patients with Huntington's. And the neuropathological changes found in these animals -- particularly those with the most pronounced clinical symptoms -- are very similar to those seen in the brains of patients with Huntington's disease. Even the same brain regions appear to be predominantly affected."

Huntington's disease is an inherited disorder that results from the genetically programmed degeneration of cells in certain areas of the brain. Symptoms, which typically begin in middle age, may vary considerably from person to person, but over time, the disease robs the person's ability

Contact: Cynthia Manley
Vanderbilt University Medical Center

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