Mutations in mitochondrial DNA causing tubulointerstitial kidney disease
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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 classical features of mitochondrial disease. Patient fibroblasts showed reduced levels of mitochondrial tRNA
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1553-7404
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MRC (unknown)
Medical Research Council (MC_UU_12022/6)
Wellcome Trust (101876/Z/13/Z)
Wellcome Trust (100140/Z/12/Z)
Wellcome Trust (096956/Z/11/Z)