Protein level nephrogenic cases Flashcards Preview

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Flashcards in Protein level nephrogenic cases Deck (20):
1

where is ADH made and transported

made in hypo and transported to post. pit. via nerves

2

how is ADH respons mediated

osmoreceptors responds to tonicity

3

what is basic ADH structure

9 AA with disulfide bond and ARG in position 8

4

2 main functions of ADH

1. vasoconstrictor
2. keep water in

5

what is main action of ADH at kidney

1. binds to V2R receptor on cell
2. signals via cAMP to PKA
3. PKA phosporylates AQP2 (aquaporin)
4. AQP2 enters tubule side and lets water in

6

what is second function of ADH

uses Ca as signal to produce more AQP2

7

what is AQP3/4

other aquaporins that are on cap side that let water into cap from cell

8

what signals ADH release

increased ECF tonicity

9

what stops secretion of ADH

drops in tonicity

10

how is AQP2 reversed

endocytosed into cell again

11

where is V2R gene located

on x chromo

12

what is common V2R mutation

C770T -- AA 137 turned from ARG to CYS

13

what is this important

results in alwyas active V2R - nephrogenic syndrome of inappropriate antidiuresis

14

how to assess

clone mutation and wild type and place in kidney cell and assess which one creates more cAMP levels

15

what is a structural consequence of R137C?

mutated AA leads to possible conformation change and also possible change in charge and therefore hydorphobicity

16

other mutations to occur?

some make more active, other such as nephrogenic diabetes insipidus make it inactive

17

treatment options of V2R receptor mutations (3)

1. fluid restrict
2. urea admin for diureses
3. V2R antagonist

18

what is mutation that can go wrong with AQP2

point mutation C to T causing defect in AQP

19

4 ways that AQP might go wrong

1. can function as porin
2. poor stability - degrades over time
3. gets stuck in ER via glycolysation
4. doesn't make it to membrane

20

possible way to save AQP with transport problem

chapaerone that helps bring it to cell surface

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