Scientists detect Marfan syndrome in domestic cats for the first time
Two brother cats with unusually long legs helped researchers from Cornell University confirm the genetic cause of a rare disease, reports ScienceDaily.
Scientists from Cornell University have identified Marfan syndrome—a rare genetic disorder of the connective tissue—in domestic cats for the first time. The affected cats were two brothers named Gary and Shaggy, who since kittenhood had unusually long limbs, eye problems, and an enlarged aorta, the body's main artery.
The study revealed that the kittens had inherited two altered copies of the FBN1 gene, which is responsible for producing the fibrillin-1 protein. This protein is essential for the strength of connective tissues that support blood vessels, bones, ligaments, and skin. In humans, Marfan syndrome is typically caused by a mutation in one copy of the gene, while having two mutated copies is considered extremely rare and severe.
However, in cats, the mutation was incomplete: the gene continued to function partially, allowing the animals to reach adulthood. Scientists note that the discovery will help veterinarians diagnose similar cases more accurately and develop genetic tests.
