Exome sequencing identifies a disease variant of the mitochondrial ATP ‐Mg/Pi carrier SLC25A25 in two families with kidney stones

ConclusionThe transporter is important in regulating mitochondrial ATP production. This rare variant may increase urine lithogenicity through impaired provision of ATP for solute transport processes in the kidney, and/or for purinergic signaling. Variants found in other genes may compound this abnormality.

Source: Molecular Genetics & Genomic Medicine - August 4, 2021 Category: Genetics & Stem Cells Authors: M. Reza Jabalameli, Fiona M. Fitzpatrick, Roberto Colombo, Sarah A. Howles, Gary Leggatt, Valerie Walker, Akira Wiberg, Edmund R. S. Kunji, Sarah Ennis Tags: ORIGINAL ARTICLE Source Type: research