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Aurora magazine

We know the mutation that causes Chédiak-Higashi syndrome

University of Missouri researchers have identified a specific mutation in the gene that causes Chédiak-Higashi syndrome. The disease causes the immune system to weaken, making the body much more vulnerable to infections. Professor Leslie Lyons and Dr. Reuben Buckley have found a possible answer in a cat's DNA.

Doctors already knew the gene responsible for the syndrome. The problem was that different treatments affect different parts of the gene, changing the final effect. Without knowing the exact mutation responsible for a specific disease, it is therefore impossible to develop a truly effective treatment. To solve this, the team of researchers used genetic sequencing techniques.

Professor Lyons worked with the late Smokey, a 16-year-old cat with Chédiak-Higashi syndrome. Thanks to in vitro fertilization, the teacher used the cat's semen to create a model of the disease. Starting from this, she and her team analyzed the genetic characteristics of this and other genetic diseases.

The team's discovery will have repercussions on human medicine and also on veterinary medicine. Knowing how the "guilty" gene works helps to better understand the syndrome in humans, albeit with all the necessary distinctions. Thanks to further studies, it will be easier to develop life-saving therapy for those suffering from this genetic disease. In addition, the discovery will improve the genetic tests that are used in breeds of purebred dogs and cats.