Role of ectodysplasin signalling in middle ear and nasal pathology in rat and mouse models of hypohidrotic ectodermal dysplasia.

ABSTRACT: Patients with mutations in the ectodysplasin receptor signalling pathway genes - the X-linked ligand ectodysplasin-A (EDA), the receptor EDAR or the receptor adapter EDARADD - have hypohidrotic ectodermal dysplasia (HED). In addition to having impaired development of teeth, hair, eccrine sweat glands, and salivary and mammary glands, HED patients have ear, nose and throat disease. The mouse strains Tabby (Eda^Ta ) and downless (Edar^dl-J/dl-J ) have rhinitis and otitis media due to loss of submucosal glands in the upper airway. We report that prenatal correction of EDAR signalling in Eda^Ta mice with the agonist anti-EDAR antibody rescues the auditory-tube submucosal glands and prevents otitis media, rhin

SUBMITTER: Del-Pozo J 

PROVIDER: S-EPMC6505480 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature