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Odd genetic syndrome suggests increased blood vessel resistance could cause hypertension
The culmination of two decades of research, a new study reveals the genetic causes of a curious, rare syndrome that manifests as hypertension (high blood pressure) accompanied by short fingers (brachydactyly type E). Six unrelated families with the syndrome come from across the globe - United States, Turkey, France, South America, and two from Canada - yet share mutations that cluster in a small region of phosphodiesterase 3A (PDE3A). Functional studies imply the mutations change resistance of blood vessels, an underappreciated mechanism for regulating blood pressure. The findings, published in Nature Genetics, suggest new directions for investigating causes of hypertension in the general population.