New insight into Huntington’s Disease Effect on the Brain

May 31, 2017

Professor Leslie M. Thompson (Neurobiology and Behavior and Psychiatry and Human Behavior) and her collaborators, have identified new defects in the blood vessels that form the blood-brain barrier in Huntington’s disease (HD) patients. Utilizing technology that “reprograms” adult skin into undifferentiated stem cells, the researchers were able to run new experiments not currently possible in living HD patients. “Now we know there are internal problems with blood vessels in the brain,” said Thompson. “This discovery can be used for possible future treatments to seal the defective, or “leaky”, blood vessels themselves and to evaluate drug delivery to patients with HD.”

The blood-brain barrier (BBB) serves to protect the brain from harmful molecules and pathogens. It has previously been shown that the BBB is damaged in neurodegenerative diseases like HD, however, what causes the damage has remained a mystery. Professor Thompson and colleagues from UCI, Columbia University, the Massachusetts Institute of Technology and Cedars-Sinai Medical Center, obtained skin cells from HD patients and reprogramed them into induced pluripotent stem cells, a special type of stem cell that can be turned into any cell within the body. They then took the induced pluripotent stem cells and created the cells that help make up the BBB.

Using this technique, they were able to identify abnormalities in the way the blood vessel cells functioned due to the presence of the mutated Huntington protein, the hallmark protein of HD. As a result, these blood vessels have a diminished capacity to form new vessels and are impaired compared to those from normal patients.

“These studies together demonstrate the incredible power of induced pluripotent stem cells to help us more fully understand human disease and identify the underlying causes of cellular processes that are altered,” said Ryan Lim, a postgraduate research scientist and primary researcher on the project.

To read more on the study, follow the link.