Expanded repeat in canine epilepsy

Science. 2005 Jan 7;307(5706):81. doi: 10.1126/science.1102832.

Abstract

Epilepsy afflicts 1% of humans and 5% of dogs. We report a canine epilepsy mutation and evidence for the existence of repeat-expansion disease outside humans. A canid-specific unstable dodecamer repeat in the Epm2b (Nhlrc1) gene recurrently expands, causing a fatal epilepsy and contributing to the high incidence of canine epilepsy. Tracing the repeat origins revealed two successive events, starting 50 million years ago, unique to canid evolution. A genetic test, presented here, will allow carrier and presymptomatic diagnosis and disease eradication. Clinicopathologic characterization establishes affected animals as a model for Lafora disease, the most severe teenage-onset human epilepsy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Animals
  • Chromosome Mapping
  • Cloning, Molecular
  • DNA Repeat Expansion*
  • Dog Diseases / genetics*
  • Dogs / genetics*
  • Female
  • Lafora Disease / genetics
  • Lafora Disease / veterinary*
  • Male
  • Muscle, Skeletal / metabolism
  • Pedigree
  • Polymerase Chain Reaction
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Sequence Analysis, DNA

Substances

  • RNA, Messenger