How a rare genetic mutations led to surprising blood pressure discovery

Only 1 in 4 people have their high blood pressure under control, making it one of the nation's biggest public health problems, according to the U.S. Centers for Disease Control and Prevention. High blood pressure is caused, in part, by the levels of fluid and salt getting out of whack, putting stress on artery walls and damaging blood vessels and organs.

The Pitt study focused on the passages - or channels - that the membranes of certain cells use to regulate fluid volume, based on how much sodium the cells contain. The researchers wanted to know if mutations in the genes that encode subunits of that channel might affect blood pressure.

The researchers wanted to build a dataset with genomic sequences and blood pressure records on more than 28,000 people who were participating in either the Trans-Omics in Precision Medicine (TOPMed) Whole-Genome Sequencing Project or the Somoan Soifua Manuia Study.

"One of the really exciting things, for me, about this project was that it was so targeted and hypothesis-driven, "one of the authors said. "Often with these big genomics projects, we're more agnostic - casting a wide net - and it can take decades for validation of a discovery. This  project made a significant find remarkably quickly."

Reference:

Brandon Michael Blobner et al, Hypertension