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Ectodysplasin A in Biological Fluids and Diagnosis of Ectodermal Dysplasia

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 (2017)

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Publication Type: Journal article

Publication year: 2017

Journal

Book Volume: 96

Pages Range: 217-224

Journal Issue: 2

DOI: 10.1177/0022034516673562

Abstract

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.

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APA:

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. https://dx.doi.org/10.1177/0022034516673562

MLA:

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

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