Scientists have transformed skin cells from patients with Huntington’s disease into the type of brain cell affected by the disorder, creating a new tool to study the degenerative and eventually fatal neurological condition.
The study, published 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.
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.
Their method allows skin cells to bypass the stem cell stage as they are being reprogrammed into neurons. Passing through a stem cell stage resets the developmental clock to an embryonic-like state, wiping out the age-associated effects of the disorder. But the directly reprogrammed neurons retain their age, along with the problems associated with adult-onset Huntington’s disease, according to the researchers.
The researchers say that their technique, which allows them to capture characteristics of the disease at distinct moments in its progression, may also be applied to other conditions as well.
Paper: “Striatal neurons directly converted from Huntington’s disease patient fibroblasts recapitulate age-associated disease phenotypes”
Reprinted from materials provided by Washington University School of Medicine.