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Review Open access

Recurrent Single-Nucleotide Insertions in the Mitochondrial Second Light-Strand Promoter Cause Tubulointerstitial Kidney Disease

K. Svojšová K. Kidd Dita Mušálková T. Kmochová H. Hartmannová K. Hodaňová V. Stránecký V. Barešová Helena Trešlová M. Radina L. Pavlovičová J. Sikora Abbigail Taylor L. Martin A. Sanchez N. Weller Thomas Pinder M. Astley Xiangling Wang Abhijit Dixit S. Korbet Colm Rowan Peter J Conlon K. Soto Afonso Santos Marek Mysliveček J. Zeman Hana Štufková Hana Hansíková K. Tauchmannová Petr Pecina V. Kaplanová M. Vrbacký T. Mráček Örjan Persson Claes M Gustafsson M. Falkenberg M. Živná A. Bleyer S. Kmoch
Aug 2026 · medRxiv · 0 citations
Medicine

TL;DR

Findings establish the physiological relevance of the LSP2 promoter, support routine assessment of the mitochondrial genome in inherited kidney disease, and highlight mtDNA variants as an important cause of familial and sporadic tubulointerstitial kidney disease of previously unexplained etiology.

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