MOST

Modelling Steroidogenesis

Coordinatore	THE UNIVERSITY OF BIRMINGHAM    more  Organization address address: Edgbaston city: BIRMINGHAM postcode: B15 2TT contact info Titolo: Ms. Nome: May Cognome: Chung Email: send email Telefono: 441214000000 Fax: 441214000000
Nazionalità Coordinatore	United Kingdom [UK]
Totale costo	309˙235 €
EC contributo	309˙235 €
Programma	FP7-PEOPLE Specific programme "People" implementing the Seventh Framework Programme of the European Community for research, technological development and demonstration activities (2007 to 2013)
Code Call	FP7-PEOPLE-2012-IEF
Funding Scheme	MC-IEF
Anno di inizio	2013
Periodo (anno-mese-giorno)	2013-07-01   -   2015-06-30

 Partecipanti

#	participant	country	role	EC contrib. [€]
1	THE UNIVERSITY OF BIRMINGHAM  Organization address address: Edgbaston city: BIRMINGHAM postcode: B15 2TT contact info Titolo: Ms. Nome: May Cognome: Chung Email: send email Telefono: 441214000000 Fax: 441214000000	UK (BIRMINGHAM)	coordinator	309˙235.20

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 Obiettivo del progetto (Objective)

'Congenital Adrenal Hyperplasia (CAH) ranks amongst the most common inherited metabolic diseases. It represents a group of autosomal recessive disorders caused by mutations in genes encoding for steroidogenic enzymes. Steroid 21-hydroxylase (CYP21A2) deficiency (21OHD) caused by mutations in CYP21A2 is the most common form of CAH. The severity of the clinical phenotype correlates with residual CYP21A2 activity. About 500,000 individuals within the EU suffer from CAH leading to a significant health burden on health care provision. No innovative treatment strategies have been developed to avoid overtreatment with glucocorticoids. This is mainly due to a lack of understanding of the pathophysiologic impact of CYP21A2 mutants according to the severity of their functional impairment. The proposed project will follow an innovative research strategy to dissect the phenotypic impact of different CYP21A2 mutations on systemic homeostasis employing zebrafish. Complete and partially inactivating variants of zebrafish 21-hydroxylase (zCyp21a2) modelling human CYP21A2 mutations and mimicking different human disease severities will be tested for their in vitro enzymatic properties. In addition, complete and partial Cyp21a2 mutant zebrafish will be generated to study the systemic consequences during development and in adults by morphological analysis, expression studies, and steroid profiling by LC/MSMS. Different degrees of impaired steroidogenesis are predicted to result in differential systemic consequences. The obtained data will discover novel pathways important to the pathophysiologic understanding of 21OHD and inborn errors of steroidogenesis in general. In conclusion, this highly innovative project will combine state-of-the-art methodologies to study inborn errors of steroidogenesis in an individualised way. The proposed studies will hopefully pave for novel personalised therapeutic approaches and in addition provide an ideal advanced training platform.'