Ectodysplasin A in Biological Fluids and Diagnosis of Ectodermal Dysplasia

Beitrag in einer Fachzeitschrift

Details zur Publikation

Autor(en): Podzus J, Kowalczyk-Quintas C, Schuepbach-Mallepell S, Willen L, Staehlin G, Vigolo M, Tardivel A, Headon D, Kirby N, Mikkola ML, Schneider H, Schneider P
Zeitschrift: Journal of Dental Research
Jahr der Veröffentlichung: 2017
Band: 96
Heftnummer: 2
Seitenbereich: 217-224
ISSN: 0022-0345


The tumor necrosis factor (TNF) family ligand ectodysplasin A (EDA) is produced as 2 full-length splice variants, EDA1 and EDA2, that bind to EDA receptor (EDAR) and X-linked EDA receptor (XEDAR/EDA2R), respectively. Inactivating mutations in Eda or Edar cause hypohidrotic ectodermal dysplasia (HED), a condition characterized by malformations of the teeth, hair and glands, with milder deficiencies affecting only the teeth. EDA acts early during the development of ectodermal appendages-as early as the embryonic placode stage-and plays a role in adult appendage function. In this study, the authors measured EDA in serum, saliva and dried blood spots. The authors detected 3- to 4-fold higher levels of circulating EDA in cord blood than in adult sera. A receptor binding-competent form of EDA1 was the main form of EDA but a minor fraction of EDA2 was also found in fetal bovine serum. Sera of EDA-deficient patients contained either background EDA levels or low levels of EDA that could not bind to recombinant EDAR. The serum of a patient with a V262F missense mutation in Eda, which caused a milder form of X-linked HED (XLHED), contained low levels of EDA capable of binding to EDAR. In 2 mildly affected carriers, intermediate levels of EDA were detected, whereas a severely affected carrier had no active EDA in the serum. Small amounts of EDA were also detectable in normal adult saliva. Finally, EDA could be measured in spots of wild-type adult or cord blood dried onto filter paper at levels significantly higher than that measured in EDA-deficient blood. Measurement of EDA levels combined with receptor-binding assays might be of relevance to aid in the diagnosis of total or partial EDA deficiencies.

FAU-Autoren / FAU-Herausgeber

Schneider, Holm Prof. Dr.
Professur für Kinderheilkunde/Experimentelle Perinatalmedizin

Autor(en) der externen Einrichtung(en)
Edimer Pharmaceuticals
Helsingin yliopisto / University of Helsinki
Université de Lausanne (UNIL)
University of Edinburgh


Podzus, J., Kowalczyk-Quintas, C., Schuepbach-Mallepell, S., Willen, L., Staehlin, G., Vigolo, M.,... Schneider, P. (2017). Ectodysplasin A in Biological Fluids and Diagnosis of Ectodermal Dysplasia. Journal of Dental Research, 96(2), 217-224.

Podzus, J., et al. "Ectodysplasin A in Biological Fluids and Diagnosis of Ectodermal Dysplasia." Journal of Dental Research 96.2 (2017): 217-224.


Zuletzt aktualisiert 2018-10-10 um 13:23