New cattle disease detected and on its way to eradication – University of Copenhagen

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12 January 2017

New cattle disease detected and on its way to eradication


Professor Jørgen Agerholm and his team at the Department of Veterinary Clinical Sciences have found a new disease in cattle. The disease causes calves to be fatally crippled and mostly requires delivery by Caesarean section. The disease is genetic, and now it is possible to eradicate it in breeding.

CT scan of a defect calf taken by Professor Fintan McEvoy at the Department of Veterinary Clinical Sciences.

The disease, which consists of a mutation of the calves’ CHRNB1 gene, is hereditary. A calf born by a cow with the mutation, which has been impregnated by a bull also carrying the mutation, has a 25-per cent risk of being born with anomalies, which typically results in delivery by Caesarean section and subsequent termination of the calf. The disease corresponds to a form of congenital myasthenia in children.

The above discovery has been made by Professor Jørgen Agerholm, DVM, PhD, DVSci from the Department of Veterinary Clinical Sciences at the Faculty of Health and Medical Sciences and his team in close collaboration with the research group of Professor Cord Drögemüller at the University of Bern, Switzerland, and their results have been published in BMC Genomics under the title ”A CHRNB1 frameshift mutation is associated with familial arthrogryposis multiplex congenita in Red dairy cattle”.

’We collaborate with the Danish cattle industry on a research project studying deformities in calves. In this connection we received calves from practicing veterinarians. Some diseased calves showed similarities and turned out to be from the same family. We were able to trace the mutation back to a single breeding bull’, says Professor Jørgen Agerholm.

The breeding bull with the damaging genetic mutation has been used extensively both in Denmark and abroad due to his otherwise excellent genetic qualities. Similarly, some of his male offspring also carrying the mutation have also been used in cattle breeding. But after the discovery of the mutation, they will not be used further:

‘Now that we have identified the mutation, the Danish cattle breeding associations test their bulls for the mutation. In order to attract the disease, the calf must have inherited a defective gene from both parents. So if you make sure no bulls used for breeding carry the mutation, which is easier than to test all cows, you will not get any diseased calves. This is the cheapest and best way of stopping the spread’.

A calf, whose dam or sire, but not both, carry the mutation, will be born healthy, but have a 50-per cent risk of becoming a carrier of the genetic disorder. From now on only bulls who don’t carry the genetic disorder will be used for breeding.

’We avoid breeding calves with these severe deformities. Those calves cannot live. In terms of animal welfare, this is important, so it is good that the cattle breeders take this seriously. It is also clear that serious genetic diseases negatively affect the farms’ economy. This disease not only means that you lose the calf, the cow also needs to undergo a Caesarean section’, Professor Agerholm explains.

In addition to benefitting the animals and the farms, Professor Jørgen Agerholm also believes that the results can benefit research in congenital myasthenia in children:

‘We have detected a mutation in a gene also found in humans. Doctors may use this in-depth knowledge of the function of the gene in their research of similar defects in children. Research into genetic cattle diseases thus reaches into the field of human medicine, just as it contributes to basic knowledge of the functions and significance of genes’.

Read the study: Agerholm JS, McEvoy FJ, Menzi F, Jagannathan V, Drögemüller C:
A CHRNB1 frameshift mutation is associated with familial arthrogryposis multiplex congenita in Red dairy cattle