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10.1371/journal.pgen.1006620 http://scihub22266oqcxt.onion/10.1371/journal.pgen.1006620 C5360345!5360345 !28267784     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\28267784 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       PLoS+Genet 2017 ; 13 (3 ): e1006620 Nephropedia Template TP {{tp|p=28267784 |t=2017. Mutations in mitochondrial DNA causing tubulointerstitial kidney disease |pdf=|usr=}}{{28267784 }} gab.com Text Mutations in mitochondrial DNA causing tubulointerstitial kidney disease JO: PLoS Genet http://www.kidney.de/pget.php?&tw=1&pmid=28267784 #FOAvip 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 tRNAPhe, tRNALeu1 and reduced mitochondrial protein translation and respiration. Mitochondrial transfer demonstrated mitochondrial transmission of the defect and in vitro assays showed reduced activity of the heavy strand promoter. We also identified further kindreds with the same phenotype carrying a homoplasmic mutation in mitochondrial tRNAPhe (m.616T>C). Thus mutations in mitochondrial DNA can cause maternally inherited renal disease, likely mediated through reduced function of mitochondrial tRNAPhe. Twit Text FOAVip Mutations in mitochondrial DNA causing tubulointerstitial kidney disease ????PLoS Genet http://www.kidney.de/pget.php?&tw=1&pmid=28267784 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28267784 #FOAvip English Wikipedia <ref>{{Cite pmid|28267784 }}</ref> Mutations in mitochondrial DNA causing tubulointerstitial kidney disease #MMPMID28267784 Connor TM ; Hoer S ; Mallett A ; Gale DP ; Gomez-Duran A ; Posse V ; Antrobus R ; Moreno P ; Sciacovelli M ; Frezza C ; Duff J ; Sheerin NS ; Sayer JA ; Ashcroft M ; Wiesener MS ; Hudson G ; Gustafsson CM ; Chinnery PF ; Maxwell PH PLoS Genet 2017[Mar]; 13 (3 ): e1006620 PMID28267784 show ga 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 tRNAPhe, tRNALeu1 and reduced mitochondrial protein translation and respiration. Mitochondrial transfer demonstrated mitochondrial transmission of the defect and in vitro assays showed reduced activity of the heavy strand promoter. We also identified further kindreds with the same phenotype carrying a homoplasmic mutation in mitochondrial tRNAPhe (m.616T>C). Thus mutations in mitochondrial DNA can cause maternally inherited renal disease, likely mediated through reduced function of mitochondrial tRNAPhe. |*Mutation [MESH] |Acetylglucosaminidase/urine [MESH] |Biopsy [MESH] |DNA, Mitochondrial/*genetics [MESH] |Female [MESH] |Fibroblasts/metabolism [MESH] |Genetic Linkage [MESH] |Humans [MESH] |Kidney Diseases/*genetics [MESH] |Kidney Tubules/*pathology [MESH] |Leucine/chemistry [MESH] |Male [MESH] |Mitochondria/metabolism [MESH] |Oxygen Consumption [MESH] |Pedigree [MESH] |Phenotype [MESH] |Phenylalanine/chemistry [MESH] |Polymorphism, Single Nucleotide [MESH] |Promoter Regions, Genetic [MESH] |Quadriceps Muscle/pathology [MESH]Mutations in mitochondrial DNA causing tubulointerstitial kidney disea(epmc).pdf DeepDyve Pubget Overpricing