Recurrent Single-Nucleotide Insertions in the Mitochondrial Second Light-Strand Promoter Cause Tubulointerstitial Kidney Disease
Klára Svojšová, Kendrah O. Kidd, Dita Mušálková, Tereza Kmochová, Hana Hartmannová, Kateřina Hodaňová, Viktor Stránecký, Veronika Barešová, Helena Trešlová, Martin Radina, Lea Pavlovičová, Jakub Sikora, Abbigail Taylor, Lauren Martin, Antonio Sanchez, , Stanislav Kmoch
The paper identifies recurrent mtDNA variants, particularly in the LSP2 promoter, as a cause of tubulointerstitial kidney disease in families with maternal inheritance.
medRxiv · Aug 3, 2026 · PreprintGenetic & Genomic Medicine