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Office of Neuroscience Research > WUSTL Neuroscience News > Altering Huntington’s disease patients’ skin cells into brain cells sheds light on disorder

Altering Huntington’s disease patients’ skin cells into brain cells sheds light on disorder



From the WashU Newsroom...

Scientists at Washington University School of Medicine in St. Louis have transformed skin cells from patients with Huntington’s disease into the type of brain cell affected by the disorder. The resulting mass of neurons serves as a new tool to study the degenerative and eventually fatal neurological condition, according to the researchers.

The study, published Feb. 5 in Nature Neuroscience, showed that the patients’ nerve cells — converted directly from patients’ skin cells — exhibited “symptoms” of the disorder, including DNA damage, dysfunctional mitochondria and cell death. Correcting for malfunctioning genes in these reprogrammed neurons prevented the cell death that is characteristic of Huntington’s disease, an inherited genetic disorder that causes cognitive decline and involuntary muscle movements. Symptoms typically appear in people with the disease when they are ages 30 to 50 and steadily worsen over time. On average, patients live about 20 years after symptoms begin.

“This is a powerful tool to investigate the reasons why particular brain cells with the disease-associated mutation become sick over time and eventually die,” said senior author Andrew S. Yoo, assistant professor of developmental biology. “In theory, we could model progression of the disease by reprogramming skin cells from patients at a range of ages, including before symptoms begin. And if there are drugs or compounds that may help these patients, we can test them first in this system.”

Huntington’s disease and other inherited brain conditions are challenging to study because it is difficult to obtain samples of neurons from living patients. Seeking the next best thing, scientists have found ways to transform skin cells into brain cells.

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