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Renal manifestations of genetic mitochondrial disease

Authors O'Toole J

Received 24 October 2013

Accepted for publication 14 November 2013

Published 31 January 2014 Volume 2014:7 Pages 57—67


Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 3

John F O'Toole

Department of Internal Medicine, Division of Nephrology, MetroHealth Medical System, Case Western Reserve University School of Medicine, Cleveland, OH, USA

Abstract: Mitochondrial diseases can be related to mutations in either the nuclear or mitochondrial genome. Childhood presentations are commonly associated with renal tubular dysfunction, but renal involvement is less commonly reported outside of this age-group. Mitochondrial diseases are notable for the significant variability in their clinical presentation and the broad spectrum of genes implicated in their etiology. These features contribute to the challenges of establishing a definitive diagnosis and understanding the pathogenetic mechanisms leading to kidney involvement in these diseases. Here, we review the deoxyribonucleic acid variants in the mitochondrial and nuclear genomes that have been associated with a kidney phenotype, and examine some of the possible pathogenic mechanisms that may contribute to the expression of a renal phenotype.

Keywords: genetics, kidney, mitochondria

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