AANS Neurosurgeon | Volume 27, Number 1, 2018

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Altering Huntington’s Disease Patients’ Skin Cells Into Brain Cells Sheds Light on Disorder

Reprogrammed brain cells exhibit ‘symptoms’ of fatal disease

 

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 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.

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