Pathogenesis of disorders caused by human P450 oxidoreductase mutations

01.07.2012 – 30.06.2016

Summary

Scientific abstract

Summary: Pathogenesis of disorders caused by human P450 oxidoreductase mutationsBACKGROUND: Mutations in human NADPH cytochrome P450 oxidoreductase (POR, CPR, CYPOR) cause congenital adrenal hyperplasia (Flück, Tajima et al. 2004). All Microsomal P450s involved in steroid/drug metabolism need POR for electron transfer from NADPH, therefore it was suggested that POR mutations are unlikely (Miller 1986). Patients with apparen...

Persons

Applicants

Employees

  • Shaheena Parween, Abteilung für Pädiatrische Endokrinologie, Diabetologie und Stoffwechsel Medizinische Universitäts-Kinderklinik, Switzerland
  • Sameer Udhane, Abteilung für Pädiatrische Endokrinologie, Diabetologie und Stoffwechsel Medizinische Universitäts-Kinderklinik, Switzerland

Disciplines and keywords

mySNF disciplines (provided by researchers): Endocrinology
Fields of research (mapped from mySNF Disciplines): Biomedical and Clinical Sciences
Keywords: P450 oxidoreductase, POR, Steroid biosynthesis, disorders of sexual development, CYP3A4, CYP17A1, CYP19A1, CYP21A2, Heme oxygenase, Drug metabolism, Pharmacogenomics, Cytochrome P450

Overview

Grant number
134926
Funding scheme
Project funding
Call
Projektförderung 2010 (01.10.2010)
Approved amount
331,000 CHF
Status
Completed
Research institution
University of Berne - BE
Institute
Departement Klinische Forschung Medizinische Fakultät Universität Bern; Kinderklinik Inselspital