Research progress on inherited distal renal tubular acidosis due to variants of V-ATPase-related genes
10.3760/cma.j.cn511374-20240224-00120
- VernacularTitle:V-ATP酶相关基因变异致遗传性远端肾小管酸中毒的分子遗传学研究进展
- Author:
Siqi PENG
1
;
Qianqian WU
;
Junlan YANG
;
Bin WANG
;
Xiaoliang ZHANG
Author Information
1. 东南大学肾脏病研究所，东南大学附属中大医院肾脏科，南京 210009
- Keywords:
V-ATPase;
Genetic variant;
Inherited distal renal acidosis;
Molecular mechanism
- From:
Chinese Journal of Medical Genetics
2024;41(11):1399-1404
- CountryChina
- Language:Chinese
-
Abstract:
V-ATPases are a class of multi-subunit protein complexes that utilize energy derived from ATP hydrolysis for mediating H + transport across cell membranes, which plays an important role in a range of life activities by acidifying the intracellular and extracellular environment. Variants of V-ATPase genes may lead to complete or partial loss of V-ATPase activity, which in turn may impair the ability of type A intercalated cells in renal tubules to pump H + into the tubular lumen, ultimately resulting in the onset of autosomal recessive distal renal tubular acidosis (dRTA). With the rapid development of molecular techniques, ATP6V0A4 and ATP6V1B1 have now been identified as the pathogenic genes for dRTA. Moreover, animal and cell experiments have substantiated the implication of V-ATPase subunit genes including ATP6V1C2 and ATP6V1G3 in the development of dRTA, though clinical evidence is still limited. This article has reviewed recent progress on the genetic and molecular mechanisms of V-ATPase subunit gene variants which can lead to dRTA, which may shed light on the diagnosis and treatment of this disease.
