Abstract：
:Liddle's syndrome is an inherited form of hypertension caused by mutations that truncate the C-terminus of human epithelial Na+ channel (hENaC) subunits. Expression of truncated beta and gamma hENaC subunits increased Na+ current. However, truncation did not alter single-channel conductance or open state probability, suggesting there were more channels in the plasma membrane. Moreover, truncation of the C-terminus of the beta subunit increased apical cell-surface expression of hENaC in a renal epithelium. We identified a conserved motif in the C-terminus of all three subunits that, when mutated, reproduced the effect of Liddle's truncations. Further, both truncation of the C-terminus and mutation of the conserved C-terminal motif increased surface expression of chimeric proteins containing the C-terminus of beta hENaC. Thus, by deleting a conserved motif, Liddle's mutations increase the number of Na+ channels in the apical membrane, which increases renal Na+ absorption and creates a predisposition to hypertension.
journal_name
Celljournal_title
Cellauthors
Snyder PM,Price MP,McDonald FJ,Adams CM,Volk KA,Zeiher BG,Stokes JB,Welsh MJdoi
10.1016/0092-8674(95)90212-0subject
Has Abstractpub_date
1995-12-15 00:00:00pages
969-78issue
6eissn
0092-8674issn
1097-4172pii
0092-8674(95)90212-0journal_volume
83pub_type
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