Protein level nephrogenic cases Flashcards
where is ADH made and transported
made in hypo and transported to post. pit. via nerves
how is ADH respons mediated
osmoreceptors responds to tonicity
what is basic ADH structure
9 AA with disulfide bond and ARG in position 8
2 main functions of ADH
- vasoconstrictor
2. keep water in
what is main action of ADH at kidney
- binds to V2R receptor on cell
- signals via cAMP to PKA
- PKA phosporylates AQP2 (aquaporin)
- AQP2 enters tubule side and lets water in
what is second function of ADH
uses Ca as signal to produce more AQP2
what is AQP3/4
other aquaporins that are on cap side that let water into cap from cell
what signals ADH release
increased ECF tonicity
what stops secretion of ADH
drops in tonicity
how is AQP2 reversed
endocytosed into cell again
where is V2R gene located
on x chromo
what is common V2R mutation
C770T – AA 137 turned from ARG to CYS
what is this important
results in alwyas active V2R - nephrogenic syndrome of inappropriate antidiuresis
how to assess
clone mutation and wild type and place in kidney cell and assess which one creates more cAMP levels
what is a structural consequence of R137C?
mutated AA leads to possible conformation change and also possible change in charge and therefore hydorphobicity
