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Friday, May 12 2017
Press release

A discovery with flairs!

Genetic disorders in dogs to inform novel medical developments for human neuropathies

MONTREAL, May 12, 2016 – An international research team has shown that a genetic disorder in dogs may lead to novel medical developments for human neuropathies, according to a study published in PLOS Genetics. Genetic disorders in dogs frequently occur in particular breeds, by chance association with traits for which the breeds were selected. It is difficult for breeders to eliminate such traits without a genetic test, because most animals in the breed are unaffected, yet some are carriers of the bad gene, as human carriers of genetic diseases such as cystic fibrosis may be unaffected. However, once a causal mutation in the genome is found for a particular genetic disorder, individuals can be screened preventively with a genetic test. In the case of dogs, breeders can then avoid mating two carrier animals, in principle avoiding the birth of any affected animals. This study of a canine neuropathy allowed the identification of a novel gene, not yet described in human neuropathies, opening the field of clinical trials to benefit both canine and human medicine.

Dogs are relatively large mammals, and share many aspects of human biology. Naturally occurring genetic conditions in dogs have provided some useful models for similar human diseases. “For example, a naturally occurring form of genetic blindness in dogs was used to help develop a successful form of gene therapy which is now being tested in human children with the same kind of genetic blindness,” said Dr. Mark Samuels of Sainte-Justine University Hospital Research Centre and the University of Montreal’s Department of Medicine.

The research team has now solved the genetic disease canine insensitivity to pain with neuropathy. In this disease, the affected animals lose peripheral nerve system function and suffer severe injuries particularly in their paws, usually leading to euthanasia. Affected animals arise in several related breeds including some pointers and spaniels, but most animals in these breeds are unaffected making the identification of carriers difficult. “Through a combination of genetic mapping and high throughput genomic sequencing, we found a strong candidate for the underlying causal mutation. The mutation is in an unusual type of gene, which appears to regulate the function of an immediately adjacent gene. The adjacent gene codes for a known nerve growth factor called glial derived neurotrophic factor (GDNF)”, add Mark Samuels. The team hypothesizes that the mutated gene leads to reduced GDNF activity, which in turn interferes with normal nerve growth or maintenance. Altogether, these results allowed the identification in dogs of GDNF as a relevant candidate for human hereditary sensory and autonomic neuropathy (HSAN) and insensitivity to pain, but also shed light on the regulation of GDNF expression. Finally, such results allow proposing these breeds as natural models for clinical trials with a double benefit for human and veterinary medicine.

Identification of the mutation has quickly led to the development of a genetic test which allows breeders to identify carriers and hence avoid mating them or producing affected puppies. At the same time, geneticists studying human neuropathies now have a new gene to explore in unsolved cases of neuropathy. Similar peripheral neuropathies are a significant debilitating aspect of diabetes, thus genetic discoveries in this field have the potential to inform novel medical developments for this condition.

About the study

The article “A Point Mutation in a lincRNA Upstream of GDNF Is Associated to a Canine Insensitivity to Pain: A Spontaneous Model for Human Sensory Neuropathies” was published in PLOS Genetics. The international team was led by Drs. Jocelyn Plassais at the National Institutes of Health (NIH), USA and Catherine André at the Centre National de la Recherche Scientifique (CNRS), France. The University of Montreal collaborators include Drs. Manon Paradis and David Silversides at the Faculty of Veterinary Medicine at Sainte-Hyacinthe, and Dr. Mark Samuels at the CHU Sainte-Justine Research Center.

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About the CHU Sainte-Justine Research Center 

CHU Sainte-Justine Research Center is a leading mother-child research institution affiliated with Université de Montréal. It brings together more than 200 research investigators, including over 90 clinician-scientists, as well as 385 graduate and postgraduate students focused on finding innovative prevention means, faster and less invasive treatments, as well as personalized approaches to medicine. The Center is part of CHU Sainte-Justine, which is the largest mother-child center in Canada and second pediatric center in North America. More on research.chusj.org

CHU Sainte-Justine

Communications, CHU Sainte-Justine Research Center

Media contact:
Mélanie Dallaire
Senior consultant, Media Relations
CHU Sainte-Justine
Office : 514-345-7707 / Pager : 514-415-5727


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Updated on 5/12/2017
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