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Molecular foundations of the human ectodermic dysplasia syndrome

14th national competition for scientific and technical research

Rare diseases

Senior Researcher : Paloma Pérez Sánchez

Research Centre or Institution : Instituto de Biomedicina de Valencia. CSIC.


Ectodermic Dysplasias (EDs) comprise a large and heterogeneous group of congenital diseases that originate as a consequence of alterations in the development of embryonic ectodermic epithelia, after which it is named. ED patients have primary defects that affect the formation of hair, nails, teeth and sweat glands. In the most severe cases, the absence of sweat glands causes hypothermia in new-born babies and is considered a possible cause of sudden infant death syndrome. Even in those cases in which the patient's life is not at stake, the defects in dental and palate development, among others, require frequent surgical operations, which affects the quality of life of the patient and family members. To date, the causal gene has only been identified in thirty of the approximately two hundred pathologies classified as ED.

Our study proposes that the glucocorticoid (GR) receptor, a protein that controls hormone activity, plays a direct or indirect role in ED pathology, based on the known teratogenic effect of corticoids. Previous studies carried out by the group have demonstrated, by means of the generation and characterisation of genetically manipulated animal models, that GR overexpression in epithelia causes several morphogenetic defects, similar to the medical profile of ED patients. Therefore, by analysing different transgenic models of GR gain- and loss-of-function in epithelia, we will undertake to identify other underlying signalling pathways in these diseases. This study has potential application in the study of ED Syndrome, both in the possible early diagnosis of the disease and in treatment of epithelial damage in patients.

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