Hypertension is a modifiable risk factor for heart disease. Nearly half of those with hypertension or other diseases that affect blood pressure cannot lower their blood pressure to the desired level of 120/80 mmHg. Genetic research-driven advances in our understanding of disease processes may result in more effective medical interventions.
Using data from genome-wide association studies for hypertension and high throughput assays, they determined the function of PRDM6 in controlling blood pressure. Yale scientists demonstrated that the PRDM6 gene is crucial for maintaining the amount of renin-producing cells throughout embryonic development using various transgenic mice models. Renin is an enzyme that the kidneys generate that, if levels are raised, can lead to hypertension. The blood pressure was able to return to normal thanks to the renin inhibitor aliskiren.
Arya Mani, MD, Robert W. Berliner Professor of Internal Medicine (Cardiology), said, “For this study, we identified PRDM6 as the causal gene for a genome-wide association locus and established a link between PRDM6 mutation and the development of hypertension in vivo.”
“Since PRDM6 is an epigenetic regulator, understanding how it causes the disease can provide insight into how environmental factors can influence blood pressure.”
The research team will continue to study the developmental role of PRDM6 in blood pressure regulation.