Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia

Am J Hum Genet. 2007 Nov;81(5):1050-6. doi: 10.1086/521988. Epub 2007 Sep 18.

Abstract

Patients with defective ectodysplasin A (EDA) are affected by X-linked hypohidrotic ectodermal dysplasia (XLHED), a condition characterized by sparse hair, inability to sweat, decreased lacrimation, frequent pulmonary infections, and missing and malformed teeth. The canine model of XLHED was used to study the developmental impact of EDA on secondary dentition, since dogs have an entirely brachyodont, diphyodont dentition similar to that in humans, as opposed to mice, which have only permanent teeth (monophyodont dentition), some of which are very different (aradicular hypsodont) than brachyodont human teeth. Also, clinical signs in humans and dogs with XLHED are virtually identical, whereas several are missing in the murine equivalent. In our model, the genetically missing EDA was compensated for by postnatal intravenous administration of soluble recombinant EDA. Untreated XLHED dogs have an incomplete set of conically shaped teeth similar to those seen in human patients with XLHED. After treatment with EDA, significant normalization of adult teeth was achieved in four of five XLHED dogs. Moreover, treatment restored normal lacrimation and resistance to eye and airway infections and improved sweating ability. These results not only provide proof of concept for a potential treatment of this orphan disease but also demonstrate an essential role of EDA in the development of secondary dentition.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Animals, Newborn
  • Dentition
  • Disease Models, Animal*
  • Dogs
  • Ectodermal Dysplasia / therapy*
  • Ectodysplasins / administration & dosage*
  • Ectodysplasins / pharmacology*
  • Female
  • Genetic Diseases, X-Linked / therapy*
  • Humans
  • Injections, Intravenous
  • Lacrimal Apparatus / drug effects
  • Lacrimal Apparatus / metabolism
  • Male
  • Mandible / diagnostic imaging
  • Mandible / drug effects
  • Mice
  • Mucociliary Clearance / drug effects
  • Radiography
  • Recombinant Proteins / administration & dosage*
  • Recombinant Proteins / pharmacology*
  • Sweating / drug effects
  • Treatment Outcome

Substances

  • Ectodysplasins
  • Recombinant Proteins