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What might be the effect on liver function of a mutation in a gene that encodes...

What might be the effect on liver function of a mutation in a gene that encodes a cAMP phosphodiesterase? Of a mutation in a gene encoding a glucagon receptor? Of a mutation in a gene encoding phosphorylase kinase? Of a mutation that altered the active site of the GTPase of a G subunit? (Assume in all cases that the mutation causes a loss of function of the gene product.)

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Answer #1

In liver glucose will be stored as glycogen. Level of glucose in blood and glycogen amount in muscle is tightly regulated by cAMP pathway.

1. Loss of cAMP phosphodiesterase:- cAMP phosphodiesterase is an enzyme that functions in cAMP breakdown. When blood glucose level goes low,glucagon will act and produce more CAMP which will increase gluconeogenesis and glycogenolysis. So when cAMP phosphodiesterase activity is lost,cAMP level will increase and finally blood glucose level will be increased

2.Loss of glucagon receptor and phosphorylase kinase and loss of GTPase function:- glucagon receptor and phosphorylase kinase,and loss of GTPase function are important proteins in glycogenolysis. So when loss of glucagon receptor and phosphorylase kinase or loss of GTPase occurs, it will lead to loss of glycogenolysis so that glycogen amount in liver will be increased.

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