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About the Authors:
Thomas M. Connor
Contributed equally to this work with: Thomas M. Connor, Simon Hoer
Affiliation: Oxford Kidney Unit, Churchill Hospital, Oxford, United Kingdom
ORCID http://orcid.org/0000-0002-5896-7084
Simon Hoer
Contributed equally to this work with: Thomas M. Connor, Simon Hoer
Affiliation: Cambridge Institute for Medical Research, University of Cambridge, United Kingdom
ORCID http://orcid.org/0000-0002-6071-967X
Andrew Mallett
Affiliation: Kidney Health Service, Royal Brisbane and Women’s Hospital, School of Medicine, The University of Queensland, Australia
Daniel P. Gale
Affiliation: UCL Centre for Nephrology, Royal Free Hospital, London, United Kingdom
ORCID http://orcid.org/0000-0002-9170-1579
Aurora Gomez-Duran
Affiliation: MRC-Mitochondrial Biology Unit, University of Cambridge, United Kingdom
ORCID http://orcid.org/0000-0002-5895-6860
Viktor Posse
Affiliation: Institute of Biomedicine, University of Gothenburg, Sweden
Robin Antrobus
Affiliation: Cambridge Institute for Medical Research, University of Cambridge, United Kingdom
Pablo Moreno
Affiliation: Cambridge Institute for Medical Research, University of Cambridge, United Kingdom
Marco Sciacovelli
Affiliation: MRC Cancer Unit, University of Cambridge, United Kingdom
Christian Frezza
Affiliation: MRC Cancer Unit, University of Cambridge, United Kingdom
ORCID http://orcid.org/0000-0002-3293-7397
Jennifer Duff
Affiliation: Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, United Kingdom
Neil S. Sheerin
Affiliation: Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom
ORCID http://orcid.org/0000-0002-3743-2371
John A. Sayer
Affiliation: Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, United Kingdom
ORCID http://orcid.org/0000-0003-1881-3782
Margaret Ashcroft
Affiliation: Department of Medicine, University of Cambridge, United Kingdom
Michael S. Wiesener
Affiliation: Department of Nephrology and Hypertension, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany
Gavin Hudson
Affiliation: Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, United Kingdom
Claes M. Gustafsson
Affiliation: Institute of Biomedicine, University of Gothenburg, Sweden
Patrick F. Chinnery
Affiliation: MRC-Mitochondrial Biology Unit, University of Cambridge, United Kingdom
Patrick H. Maxwell
* E-mail: [email protected]
Affiliation: School of Clinical Medicine, Cambridge University, Cambridge, United KingdomAbstract
Tubulointerstitial kidney disease is an important cause of progressive renal failure whose aetiology is incompletely understood. We analysed a large pedigree with maternally inherited tubulointerstitial kidney disease and identified a homoplasmic substitution in the control region of the mitochondrial genome (m.547A>T). While mutations in mtDNA coding sequence are a well recognised cause of disease affecting multiple organs, mutations in the control region have never been shown to cause disease. Strikingly, our patients did not have...