01:13pm Monday 23 October 2017

ACE research helps understand rare kidney disease

Professor Ravi Acharya and Dr Geoffrey Masuyer worked with researchers in France to understand how specific mutations in a gene coding for Angiotensin I-Converting Enzyme (ACE) lead to a disease called Renal Tubular Dysgenesis (RTD).

The normal ACE protein is attached to the membrane where it can be cleaved and found circulating in the blood. It acts as a chemical messenger and can activate biomolecules with a variety of functions, including blood pressure regulation.

Acharya and Masuyer created molecular models of the 3D structures of mutant ACE proteins implicated in the disease. They found that the structural changes either disrupted protein folding and insertion into the membrane, or prevented the ACE from being secreted altogether.

Their work, published in the journal /Human Molecular Genetics/, highlights the importance of ACE for development of the kidneys in the growing foetus. The work is supported by the Medical Research Council (UK).

Professor Acharya commented: “This research is important because it provides the molecular basis for understanding the role of ACE in human RTD.”

We are one of the UK’s leading universities with an international reputation for quality research and teaching. Our Mission is to deliver world class research and teaching, educating our graduates to become future leaders and innovators, and benefiting the wider population through our research, enterprise and influence. Our courses are innovative and interdisciplinary and we have an outstanding record of graduate employment.


Share on:
or:

MORE FROM Kidneys and Urinary System

Health news