NYSCF and Mount Sinai Researchers Recapitulate Alzheimer’s Disease in the Laboratory


NYSCF Research Institute scientists in collaboration with researchers at the Icahn School of Medicine at Mount Sinai refined a technique to turn skin cells from patients with mild cognitive impairment into the brain cells (neurons) that degenerate first in Alzheimer’s disease. These “basal forebrain cholinergic neurons”, are responsible for the early short-term memory changes seen in Alzheimer’s disease. The nerve cells that were created in the laboratory and recapitulated the same features of the neurons that are most vulnerable in people with Alzheimer’s disease.

Alzheimer’s disease remains one of the most devastating diseases facing our global population. Affecting five million people in the US today, and projected to affect sixteen million people by 2050, there is still no effective treatment or cure. NYSCF Research Institute scientists work to change the narrative around Alzheimer’s disease. The promising new research published in Acta Neuropathologica Communications brings us closer to the goal of understanding more about the disease and identifying potential treatments.

The researchers studied cells from three sisters, two with a specific gene that causes early-onset familial Alzheimer’s disease, and one without the disorder. In the cells from the sisters with cognitive impairment, they found reduced excitability of these neurons and elevated levels of one type of amyloid beta, the main component of the abnormal plaques that build up in the brains of people with Alzheimer’s disease. These findings showed that the cells they created in the laboratory had the properties of those affected in the disease. The researchers were also able to correct the genetic mutation that caused the disease using gene editing technology (known as CRISPR/Cas9). The brain cells they created from the corrected stem cells now had normal excitability and normal levels of amyloid beta.

This research gives scientists important insights into Alzheimer’s disease while also showing that gene editing is a potential future therapy for Alzheimer’s disease. While it is too soon to tell whether this will be a viable treatment strategy, the scientists plan to test this approach in animal models before moving to human clinical trials.

Read the paper in Acta Neuropathologica Communications

Learn more about Alzheimer’s disease research at the NYSCF Research Institute

This important breakthrough was also profiled in Neurology Today, read the profile here.

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