Bodo Beck / Janine Altmüller - C 1

Rare renal disorders identify core aspects of renal homeostasis - an integral approach to discover fundamental molecular principles of the kidney

Abstract

Only by the kidney’s ability to recover salt and water life on land is possible or as the American physiologist Homer W. Smith put it “from Fish to Philosopher”. The kidney is our major homeostatic organ which controls volume and osmolytes- a prerequisite for maintaining blood pressure as well as specific ion concentration gradients required for the proper function of any cell. The kidney exerts endocrine functions and clears metabolic endproducts and xenobiotics from the circulation. Not surprisingly the kidney is affected in many metabolic diseases and kidney disease itself is a main cause of metabolic disturbance. The principle function of the kidney is based on control of renal perfusion and filtration, counter current concentration of solutes, and epithelial transport function. The latter is based on the complex interplay of ion channels, transporters and pumps in their intricate assembly in epithelial cells forming the different renal tubular segments.

We investigate rare kidney disease in a comprehensive way from its genetics bases to the molecular pathways and will prioritize the following projects:

i) the molecular mechanisms behind the MAGED2 associated type of renal polyhydramnios and Bartter syndrome,
ii) new causes for renal polyhydramnios/oligohydramnios,
iii) the mechanism in RMND1 associated hyporeninic hypoaldosteronism,
iv) the pathogenesis underlying thrombotic microangiopathy and pulmonary arterial hypertension in cobolamin deficiency type C,
and vi) translation of the molecular data into clinical relevant information

Clinical/medical relevance and sustainability in disease understanding

The project represents an innovative approach to utilize RKD in order to gain knowledge about fundamental aspects of kidney and blood pressure homeostasis. This will not only yield new causative genes and clinically relevant phenotype-genotype information, but also discover missing connections between new and known types of RKD needed to understand kidney development and physiology in greater detail.  Integration of the data will open novel therapeutic avenues for RKD’s and may prove pivotal for treatment of more common renal and cardiovascular disease.


Dr. med. Bodo Beck

Institute for Human Genetics

Dr. med. Bodo Beck

Principal Investigator C 1

bodo.beck@uk-koeln.de

Work +49 221 478 86824

Institute for Human Genetics
Kerpener Str. 34
50931 Cologne

http://humangenetik.uk-koeln.de/

Publications - Bodo Beck

Link to PubMed


Dr. med. Janine Altmüller

Cologne Center for Genomics (CCG)

Dr. med. Janine Altmüller

Co-Principal Investigator C 1

janine.altmueller@uni-koeln.de

Work +49 221 478 96819

Cologne Center for Genomics (CCG), University of Cologne
Weyertal 115b
50931 Cologne

http://portal.ccg.uni-koeln.de/ccg/

Publications - Janine Altmüller

Link to PubMed