UCL Division of Medicine


New insights into how the kidney works

21 February 2014

 Professor Robert Kleta and team have discovered a new disease mechanism shedding light onto how the kidney works (Klootwijk et al., NEJM, 2014, 370, 129-138). As a trained paediatrician and geneticist he and Dr Detlef Bockenhauer from the Institute of Child Health together lead a competitive team based at Royal Free Hospital comprised out of renal doctors, geneticists, bioinformaticians, computer scientists, cell and molecular biologists and physiologists focused on the study of rare renal disease. They investigated a clinical problem called autosomal dominant renal Fanconi syndrome in paediatric and adult patients and thereby discovered a completely novel disease mechanism: they showed that aberrant trafficking of an enzyme can cause disease not by its absence in the organelle it was intended to be, but by disturbing function of the organelle it is wrongly routed to. They discovered that a mutation in a peroxisomal protein caused misrouting to the mitochondria and interfered with mitochondrial metabolism.

Prof. Leon Fine, Professor and Chair, Dept of Biomedical Sciences, Vice-Dean, Research and Graduate Research Education, Cedars-Sinai Medical Center, Los Angeles, USA, formely UCL, commented “The paper is a tour de force of clinical observation, interdisciplinary science, multi-institutional collaboration, genomics and cellular physiology, which has led to the determination of the cause of an inherited disease. A truly outstanding achievement.”

Photo from left: Detlef Bockenhauer, Robert Kleta, Enriko Klootwijk