[Possible responsibility of EDNRA gene triplication, coding for the endothelin 1 ET-A receptor in a case of
L Masson1, V Houfflin-Debarge2, F Petit1
1Université Lille-II, hôpital Jeanne-de-Flandre, 1, rue Eugène-Avinée, 59037 Lille cedex, France.
Abstract:
Congenital diaphragmatic hernia has a physiopathology unfully understood, and is the cause of an important morbimortality. We report the case of a fetus suffering from a diaphragmatic hernia associated with a EDNRA gene triplication, coding for the endothelin 1 receptor. High-resolution genetic techniques were able to find the possible origin of this pathology, and showed that it was an isolated form with a good prognostic. ET-A receptor over-expression in lung vessels may cause a vascular remodeling and a lung arterial high blood pressure. This lung abnormality would have occurred before the diaphragmatic defect.
Related Concept Videos
Enzyme-linked Receptors
Neurotrophin (NT) receptors are a family of RTKs, including trkA, trkB, and trkC (tropomyosin-related kinase) receptors. TrkA is specific for nerve growth factor (NGF), neurotrophin-6, and neurotrophin-7. TrkB binds...
Exon Recombination
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Regulation of Angiogenesis and Blood Supply
Role of Ephrin-Eph Signalling in Intestinal Stem Cell Renewal
Transducer Mechanism: Enzyme-Linked Receptors
Major types that are helpful drug targets include:
Treatment for Pulmonary Arterial Hypertension: Endothelin Receptor Antagonists
ETs are synthesized through a complex sequence of enzymatic steps, primarily involving an enzyme referred to as endothelin-converting enzyme (ECE). Of...


