gpcr2 disease focus

Question 1

mutations of certain GPCRs lead to many diseases
list based off their symptoms
heart disease
retinis pigmentosa
diabetes insipidus

Answer 1

beta-adrenergic
Rhodopsin
vasopressin

Question 2

3 things a mutation may cause (in GPCRs)

Answer 2

ligand affinity
receptor trafficking
receptor function

Question 3

IP3 pathway from PLC

Answer 3

activated GPCR can activate phospholipidase C
PLC -> cleaves PIP2 into = IP3 and DAG
IP3 is involved in the Ca2+ pathway
IP3 triggers a release of Ca2+ from internal stores

Question 4

regulation of IP3 and Ca2+

Answer 4

IP3= metabolised into IP1
Ca2+ overstimulation will cause Ca2+ pumps to turn on and release or replenish the stores

Question 5

GPCRs can stimulate adenylyl-cyclase

Answer 5

ATP into cAMP
activating PKA- signalling cascade

Question 6

regulation of cAMP

Answer 6

adenylyl cyclase regulation via GPCRs
cAMP broken down via phosphodiesterase

Question 7

4 main effector proteins GPCRs need to regulate

Answer 7

Adenylyl cyclase- cAMP
PLC- IP3 and DAG
Ion Channels -mACh
cGMP pathway

Question 8

cause of Uveal malinoma

Answer 8

GPCRs activate adenylyl cyclase= ATP-> cAMP
mutations of the regulators of cAMP faulty= GPCR activation and Phosphodiesterase
uncontrolled growth and cancer

Question 9

mutation of the IP3 pathway=

Answer 9

problems with cell excitability
Ca2+ influx = neuronal dysfunction

And IP3 involved in immune cells activation and production
regulating vascular smooth muscle contraction