This manuscript was presented at the International Conference on Ectodermal Dysplasia, Charleston, South Carolina, March 10–12, 2008.
Version of Record online: 16 JUN 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Special Issue: Ankyloblepharon-Ectodermal Defects-Cleft Lip and/or Palate Syndrome and Ectodermal Dysplasias
Volume 149A, Issue 9, pages 2045–2049, September 2009
How to Cite
Mauldin, E. A., Gaide, O., Schneider, P. and Casal, M. L. (2009), Neonatal treatment with recombinant ectodysplasin prevents respiratory disease in dogs with X-linked ectodermal dysplasia. Am. J. Med. Genet., 149A: 2045–2049. doi: 10.1002/ajmg.a.32916
How to cite this article: Mauldin EA, Gaide O, Schneider P, Casal ML. 2009. Neonatal treatment with recombinant ectodysplasin prevents respiratory disease in dogs with X-linked ectodermal dysplasia. Am J Med Genet Part A 149A:2045–2049.
- Issue online: 20 AUG 2009
- Version of Record online: 16 JUN 2009
- Manuscript Accepted: 10 APR 2009
- Manuscript Received: 23 OCT 2008
- NIH. Grant Numbers: AR049817, RR02512
- National Foundation for Ectodermal Dysplasias
- Swiss National Research Foundation and the NCCR Molecular Oncology
- ectodermal dysplasia;
- respiratory disease;
- animal model or dog therapy;
- recombinant protein
Patients with defective ectodysplasin A (EDA) have X-linked hypohidrotic ectodermal dysplasia (XLHED; OMIM#305100), a condition comprising hypotrichosis, inability to sweat, abnormal teeth, and frequent pulmonary infections. The XLHED dogs show the same clinical signs as humans with the disorder, including frequent respiratory infections that can be fatal. The respiratory disease in humans and dogs is thought to be due to the absence of tracheal and bronchial glands which are a vital part of the mucociliary clearance mechanism. In our XLHED model, the genetically missing EDA was replaced by postnatal intravenous administration of recombinant EDA resulting in long-term, durable corrective effect on adult, permanent dentition. After treatment with EDA, significant correction of the missing tracheal and bronchial glands was achieved in those dogs that received higher doses of EDA. Moreover, successful treatment resulted in the presence of esophageal glands, improved mucociliary clearance, and the absence of respiratory infection. These results demonstrate that a short-term treatment at a neonatal age with a recombinant protein can reverse a developmental disease and result in vastly improved quality of life. © 2009 Wiley-Liss, Inc.