ENaC and Blood Pressure Regulation

Flashcards based on the experimental evidence for ENaC mutations and their impact on blood pressure.

Mutations in the genes encoding ENaC can lead to __ of blood pressure.

dysregulation

ENaC is made of __ subunits.

α, β, γ

Liddle’s Syndrome is associated with disruption of the __ motif.

PY

Experimental evidence from Shimkets et al. (1994) showed that mutant ENaC leads to __ current compared to wild type (WT).

2–3× increased amiloride-sensitive

The T594M variant leads to the loss of __ phosphorylation site.

PKC

In the study by Ray et al. (2016), V481M showed an increase in __ compared to WT ENaC.

current (2.8×)

Pseudohypoaldosteronism Type I is characterized by __ mutations in ENaC subunits.

loss-of-function

Experimental models confirm that ENaC dysfunction leads to __ and hypotension.

salt wasting

Nephrotic syndrome activates ENaC via __, mimicking Liddle’s-like sodium retention.

plasmin cleavage

SGK1 phosphorylates Nedd4-2, affecting __ of ENaC.

regulation

The Dot1a/Af9 complex plays a role in __ regulation of ENaC transcription.

epigenetic

Amiloride is known to __ the ENaC pore directly.

block

In the GenSalt study, V481M carriers showed increased sensitivity to __ intake.

high sodium

Evidence from Liddle’s patients suggested that BP is normalized with __ but resistant to other antihypertensives.

amiloride