Gene Mutation in Dogs Could Show Clues About Neural Tube Defects in Humans

A new study shows that gene mutations in dogs could offer some clues regarding neural tube defects in humans.

According to researchers at the University of California, Davis and the University of Iowa, they found evidence that the gene may be an important risk factor for human neural tube defects that can be found in more than 300,000 babies each year. These defects include anencephaly and spina bifida, which are caused by the incomplete closure or development of the spine and skull.

"The cause of neural tube defects is poorly understood but has long been thought to be associated with genetic, nutritional and environmental factors," said Noa Safra, lead author on the study and a postdoctoral fellow in the laboratory of Professor Danika Bannasch in the UC Davis School of Veterinary Medicine, via a press release.

Because of dog's extensive medical care, Safra said these pets can be a wealth of information for excellent medical research. In fact, several conditions associated with neural-tube defects are known to occur naturally in dogs.

Colleagues conducted genome mapping in four Weimaraner dogs affected by spinal dysraphism, otherwise known as a naturally occurring spinal-cord disorder. They also looked at 96 dogs that displayed no neural tube defects.

An analysis of a specific region on canine chromosome eight led researchers to a mutation in a gene referred to as NKX2-8 that is commonly known to be involved with regulating patterns of anatomical development in the embryo.

Results showed that this mutation occurred in the Weimaraner breed at a rate of 1.4 percent, according to the study.

"The data indicate that this mutation does not appear as a benign mutation in some breeds, while causing defects in other breeds," Safra said, via the release. "Our results suggest that the NKX2-8 mutation is a 'private' mutation in Weimaraners that is not shared with other breeds."

According to the study, researchers believe that identifying a breed-specific gene may help veterinarians diagnose spinal dysraphism in dogs and allow Weimaraner breeders to possibly use DNA screening to select against the mutation when developing breeding plans. 

More information regarding the study can be found in the journal PLOS Genetics.