Cantu Syndrome is Driven by Key Potassium Channel Overactivity

Newswise — Rockville, Md. (July 2, 2024)—Cantu syndrome is a multisystem disease with a complex set of cardiovascular characteristics that is punctuated by dilated or relaxed blood vessels that cause low systemic vascular resistance and a slower than normal heart rate. Researchers assessed electrical properties of the heart and gene expression to determine whether these complexities arise independently within vascular smooth muscle cells or as a secondary response. The findings of this study show that human-induced pluripotent stem cell-derived vascular smooth muscle cells reinforce expression of the same major ion currents as primary vascular smooth muscle cells. The results validate the use of these cells to study vascular disease.

Pluripotent stem cells can develop into various types of cells or tissues in the body. They are particularly powerful because they can form all three basic body layers. Vascular smooth muscle cells are the cellular components of the normal blood vessel wall that provide structural integrity.

“Our findings validate a CS patient-derived human cell model that is suitable both for detailed study of the earliest mechanisms of CS vascular pathologies, as well as for identification of new pharmacotherapeutic candidates,” the research team wrote.

Read the full article, “Electrophysiology of human iPSC-derived vascular smooth muscle cells and cell autonomous consequences of Cantu Syndrome mutations ,” published ahead of print in the journal Function. Contact APS Media Relations or call 301.634.7314 to schedule an interview with a member of the research team.