Related Experiment Videos
Inherited disorders of the H+-ATPase
Katherine J Borthwick1, Fiona E Karet
1Department of Medical Genetics, University of Cambridge, Cambridge, UK.
Purpose Of Review:
The alpha-intercalated cell in the distal nephron shares a number of molecular features with the osteoclast, including site-limited proton pumps that are present at high density. These are multisubunit H -ATPases, which are essential for acid-base homeostasis and for the maintenance of normal bone turnover. In recent years it has become evident that some rare inherited human disorders are due to pump dysfunction in kidney or in bone; these are reviewed here.
Recent Findings:
The present review provides an overview of acid secretion in both kidney and bone, and describes the recently identified diseases that are associated with mutations in tissue-specific subunits of these pumps.
Summary:
Elucidation of the molecular bases of a number of inherited renal acidopathies and bone disorders raises the possibility that additional tissue-specific subunits of these important pumps will be identified, gives hope for a better understanding of normal function at the molecular level, and may have implications for future therapeutic development.