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Expanded repeat in canine epilepsy.

Hannes Lohi1, Edwin J Young, Susan N Fitzmaurice

  • 1The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.

Science (New York, N.Y.)
|January 8, 2005
PubMed
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A canine epilepsy mutation involves an unstable repeat in the Epm2b gene, causing fatal seizures. This discovery offers a genetic test for diagnosis and eradication, and establishes dogs as a model for human Lafora disease.

Area of Science:

  • Genetics
  • Veterinary Neurology
  • Comparative Medicine

Background:

  • Epilepsy affects 1% of humans and 5% of dogs, with canine epilepsy having a high incidence.
  • The genetic basis for many forms of epilepsy, particularly in canines, remains incompletely understood.
  • Lafora disease is the most severe form of human epilepsy, typically presenting in teenage years.

Purpose of the Study:

  • To identify the genetic mutation responsible for a specific form of canine epilepsy.
  • To investigate the evolutionary origins of this mutation within the canid lineage.
  • To establish a canine model for studying human Lafora disease and develop diagnostic tools.

Main Methods:

  • Whole-genome sequencing and analysis of affected dogs.
  • Identification and characterization of a dodecamer repeat expansion in the Epm2b (Nhlrc1) gene.

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  • Phylogenetic analysis to trace the evolutionary history of the repeat sequence.
  • Clinicopathologic evaluation of affected animals.

    • Main Results:

    • A canid-specific, unstable dodecamer repeat expansion in the Epm2b (Nhlrc1) gene was identified as the cause of fatal canine epilepsy.
    • The repeat expansion recurrently occurs, contributing significantly to the high prevalence of epilepsy in dogs.
    • Evolutionary analysis indicates two distinct expansion events unique to canid evolution, originating 50 million years ago.
    • Affected dogs exhibit clinicopathologic features consistent with Lafora disease.

    Conclusions:

    • A novel genetic mutation causing epilepsy in dogs has been discovered, linked to an unstable repeat expansion in the Epm2b gene.
    • This finding provides evidence for repeat-expansion diseases occurring outside of humans.
    • A genetic test for carrier and presymptomatic diagnosis is now available, enabling potential disease eradication in dogs.
    • Canine epilepsy associated with this mutation serves as a valuable model for human Lafora disease research.