A Gene Mutation in Giraffes Could Help Treat Human Heart Disease

Adult male giraffes can reach heights of up to 6 meters (19.6 ft) tall – higher than a double-decker bus – making them the tallest terrestrial mammals. This stature helps them find food and scan for predators, but it could one day help humans too. 

In a study published on Wednesday, March 17, in the journal Science Advances researchers described how one of the genes responsible for making giraffes stand so tall might actually help to develop a treatment for heart disease and other ailments in humans. 

In the paper, the researchers from the Chinese Academy of Sciences’ Center for Excellence in Animal Evolution and Genetics posit that the gene, FGFRL1, may present an instance of pleiotropy — when one gene produces a series of seemingly unrelated traits.

Study co-author Qiang Qiu explained in an interview with Inverse that FGFRL1's pleiotropic nature in giraffes might be partly responsible for the animals' evolutionary longevity, despite a host of problems created by their physiology. The gene may have helped the animals to deal with high blood pressure and have less vulnerability to cardiovascular damage.

Mapping the giraffe genome in search of human treatments

In their study, the researchers compared a map of the giraffe genome to that of other ruminants, including cattle and okapi.

After identifying giraffe-specific mutations, the researchers tested a variant of FGFRL1 found in the giraffes by injecting it into mice.

The mice with the FGFRL1 variant and a control group of mice all had high blood pressure induced as part of the analysis. The findings revealed that the mice carrying the variant of FGFRL1 had better health overall than those in the control group.

The FGFRL1 variant mice suffered less cardiovascular and organ damage and grew denser bones than their control counterparts.

In their paper, the researchers write, "these results provide insights into the genetic basis of the giraffe anatomy and associated adaptations, with particular implications concerning the cardiovascular system, which may be helpful for treating human cardiovascular disease and hypertension." 

In his interview with Inverse, Qiu said, "we must also keep in mind that the effect may be different in different species, so there is some way to go before using it in human intervention." 

Of course, the endangered giraffe species are a very different beast from humans, so transferring the findings to human treatment is the next giraffe-sized task faced by the researchers.