People with a genetic mutation that makes it difficult to consume alcohol had significantly lower blood pressure than regular or heavy drinkers, the researchers found.
We have to do in-vitro cell culture experiments first, prove it in an animal model, and then develop a molecule or protein which will affect the mutated gene product.
Gastrointestinal stromal tumors (GIST) is the most common mesenchymal tumors of the gastrointestinal tract. Activating mutations of KIT has been identified in the vast majority of GIST.
For example, the hereditary hemochromatosis mutation protects carriers from iron-deficiency because the mutated gene allows increased efficiency of iron absorption.