Mutant gene causing Demetz Syndrome is identified

Scientists in Switzerland and Vienna have identified the gene responsible for Demetz Syndrome in Tyrolean Grey cattle.

Only 5,000 cows are registered as Tyrolean Grey cattle and, as with any animal, races or species with small populations tend to be more susceptible to genetic problems, with Demetz Syndrome highlighted as a particular issue for this breed.

A consortium of scientists from the University of Bern, Switzerland and the Universities of Veterinary Medicine and of Natural Resources and Applied Life Sciences in Vienna set about investigating the possible genetic causes of the disease, symptoms of which include lameness and lack of muscle coordination.

In a study published by the esteemed online journal PLoSone, the team revealed that a mutated Mitofusin 2 Gene (MFN2), which through genetic sequencing appeared to have no effect, actually led to a production of a shortened and non-functional protein.

"Scientists often rely on sequence information to identify mutations. But it is easy to miss things if you don't also perform traditional expression studies and look at the RNA and proteins that are produced," explained Uschi Reichart, a post-doc in the group of Mathias Muller at the University of Veterinary Medicine of the so-called 'silent mutations'.