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

M Reza Jabalameli,Fiona M Fitzpatrick, Roberto Colombo,Sarah A Howles,Gary Leggatt,Valerie Walker,Akira Wiberg,Edmund R S Kunji,Sarah Ennis

Molecular genetics & genomic medicine（2021）

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摘要

The 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.

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关键词

calcium kidney stones,calcium signaling,mitochondrial adenine nucleotide metastasis,mitochondrial transporter,purinergic signaling

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