Heart disease: Genetics clues from a mouse!
Scientists suspected that a gene called CAP2 played a role in cardiac problems in humans, but until now, it’s been hard to prove. Human patients with deletion of CAP2 presented with developmental problems in addition to heart and eye problems, and most were missing other genes in addition to CAP2. With so many variables, it was hard to prove that CAP2 was the culprit.
This is a case where animal research really helped scientists figure out what was going on. By working with genetically modified mice, they were able to ‘knock out’ the gene, and they saw similar developmental problems in these animals. They were able to control all other variables, altering only the presence of CAP2, and proved that CAP2 was indeed responsible for the development of these cardiac problems.
Now, thanks to these mice, researchers can focus their efforts on this gene in humans. Hopefully, mouse studies will allow scientists to develop new treatments for humans much sooner! Read more about it here.