UT Southwestern has collaborated with UT Health McGovern Medical School and the University of Vermont to attempt advancing the study of heart disease and stroke risk. Researchers at the organizations will use a newly developed skin-cell model to further uncover information regarding the chronic conditions.
According to UT Southwestern, skin-cell models are traditionally used for basic cell physiology studies instead of gene mutations. But researchers believe using skin-cell models could further the understanding of disease progression in an aortic aneurysm—the enlargement of the large artery in the chest that transports blood from the heart to rest of the body.
These mutations reportedly affect arteries near the heart and the base of the brain, where researchers cannot safely gather the affected tissue needed for studies. To overcome this barrier, the researchers stimulated artery muscle genes and converted skin cells from minimally invasive biopsies into muscle-like fiber webs.
“Using this new model, we compared cells from living donors with the mutation to cells without the mutation,” said study senior author Dr. Kristine Kamm, a professor of physiology at UT Southwestern. “We found that the mutation disrupts several functions of the cytoskeleton, an important organ for cell contraction, movement, structure, and other vital functions. The mutation is expected to have a more damaging effect in smooth muscle of the arteries, which contain high levels of the protein.”