The Key to Fixing These 4 Human Genetic Diseases Could Lie in Cat DNA

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Here’s a fact that won’t surprise crazy cat ladies: Cats and humans share about 90 percent of their DNA—and because of that, we’re susceptible to many of the same diseases. That’s why Dr. Leslie Lyons, leader of the Feline & Comparative Genetics Laboratory, currently at the University of Missouri, is trying to find and map mutations in the genes of domestic cats. “Our overall research goal is to develop the cat as a model for human disease,” she says. “Understanding how a gene goes wrong in a cat will help us understand how it works in humans as well.” And that means that cats can be used as models to test gene and drug therapies. (Healthier cats are a goal too, of course.) Here are a few genetically inherited diseases scientists hope cat DNA can help fix.

1. Polycystic Kidney Disease

Caused by mutations on the PKD1, PKD2, and PKHD1 genes

PKD, which affects some 500,000 people in the United States, is “one of the most prominent inherited diseases in humans,” Lyons says. It was present in approximately 30 percent of cats in the Persian breed family when the lab launched the genetic test for it in 2004. The cat mutation is found in the cat gene version of PKD1.

2. Ectodermal dysplasia

Caused by mutations on dozens of genes 

This mutation in Burmese cats causes a “stretchy skin” disease. In humans, mutations on known genes can cause more than 150 kinds of ectodermal dysplasias, or defects in the hair, skin, teeth, and sweat glands.

3. Retinitis pigmentosa

Caused by mutations on nearly 200 genes

Cats suffer from four types of inherited blindnesses, including two types of Retinitis pigmentosa. The disease, which causes photoreceptors in the retina to degenerate, leading to blindness, also affects about 1 in 3500 people. “We know that we can correct blindness with gene therapy—it’s been done,” Lyons says. “What we want to do is we correct the blindness in the cats, and if it works well in the cats, then it’s going to work well in humans too.”

4. Hypertrophic cardiomyopathy

Caused by mutations on more than 50 genes

This disease, which causes abnormally thick heart muscle, is the most common of genetic heart conditions; it affects 1 in 500 people. Breeds that are susceptible include Maine Coon, Ragdoll, Sphynx, Birman, Bengal, and Norwegian Forest Cat, according to Lyons.