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The urinary proteome and metabonome differ from normal in adults with mitochondrial disease

Lookup NU author(s): Dr Charlotte Alston, Dr Robert Pitceathly, Professor Bobby McFarlandORCiD, Dr Andrew Schaefer, Emeritus Professor Doug Turnbull, Professor Robert Taylor, Professor Grainne Gorman, Professor Michael Hanna


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We studied the extent and nature of renal involvement in a cohort of 117 adult patients with mitochondrial disease, by measuring urinary retinol-binding protein (RBP) and albumin; established markers of tubular and glomerular dysfunction, respectively. Seventy-five patients had the m.3243A>G mutation and the most frequent phenotypes within the entire cohort were 14 with MELAS, 33 with MIDD, and 17 with MERRF. Urinary RBP was increased in 29 of 75 of m.3243A > G patients, whereas albumin was increased in 23 of the 75. The corresponding numbers were 16 and 14, respectively, in the 42 non-m.3243A> G patients. RBP and albumin were higher in diabetic m.3243A>G patients than in nondiabetics, but there were no significant differences across the three major clinical phenotypes. The urine proteome (mass spectrometry) and metabonome (nuclear magnetic resonance) in a subset of the m.3243A > G patients were markedly different from controls, with the most significant alterations occurring in lysosomal proteins, calcium-binding proteins, and antioxidant defenses. Differences were also found between asymptomatic m.3243A>G carriers and controls. No patients had an elevated serum creatinine level, but 14% had hyponatremia, 10% had hypophosphatemia, and 14% had hypomagnesemia. Thus, abnormalities in kidney function are common in adults with mitochondrial disease, exist in the absence of elevated serum creatinine, and are not solely explained by diabetes.

Publication metadata

Author(s): Hall AM, Vilasi A, Garcia-Perez I, Lapsley M, Alston CL, Pitceathly RDS, McFarland R, Schaefer AM, Turnbull DM, Beaumont NJ, Hsuan JJ, Cutillas PR, Lindon JC, Holmes E, Unwin RJ, Taylor RW, Gorman GS, Rahman S, Hanna MG

Publication type: Article

Publication status: Published

Journal: Kidney International

Year: 2015

Volume: 87

Issue: 3

Pages: 610-622

Print publication date: 01/03/2015

Online publication date: 10/09/2014

Acceptance date: 10/07/2014

ISSN (print): 0085-2538

ISSN (electronic): 1523-1755

Publisher: Nature Publishing Group


DOI: 10.1038/ki.2014.297


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Funder referenceFunder name
Great Ormond Street Hospital Children's Charity
Royal Free Hospital, London, UK
St Peter's Trust for Kidney, Bladder and Prostate Research, UK
Swiss National Centre for Competence in Research (NCCR) Kidney Control of Homeostasis
UK National Institute for Health Research CSO Healthcare Science Fellowship
096919/Z/11/ZWellcome Trust Strategic Award
305608 (EURenOmics)European Union Seventh Framework Programme (FP7)