Question

Psuedohypoparathyroidism describes a disorder with a loss-of-function mutation of the Gs for parathyroid hormone receptor. What...

Psuedohypoparathyroidism describes a disorder with a loss-of-function mutation of the Gs for parathyroid hormone receptor. What would be the plasma levels of calcium, phosphate, and PTH in a patient with this disorder and why?

Homework Answers

Answer #1

1).PTH( Parathyroid hormone )along with Vit D act on osteoclast and leads to resorbtion of Bone releasing Calcium from bone into blood .

2) Intestine : PTH incraeses calcium and phsophate absorption by increasing active form of Vit D.

3.)Kidney : Decrease calcium excretion and increase phosphate excretion.

*So main function of PARATHYROID hormone is to increase Calcium levels in Blood and Decrease phosphate levels.

*When there is deficiency of PARATHYROID hormone it is known as Hypoparathyroidism .

*So PTH action is not there so blood Calcium levels will decrease and Increase phosphate levels in Blood

Decreased PTH ----->Decreased Calcium + Increased Phosphate in blood

*In case of Pseudohypoparathyroidism ,PTH levels in Blood is normal but the receptors on which it act is defective so although PTH levels are normal but PTH actions on tissues will not take place .

*Pseudohypoparathyroism occur when there is loss of function mutation of G stimulatory action of receptors through activation of Adenylate cyclase and releasing Cyclic AMP.

*So blood levels of Calcium is Decreased as PTH can not cause resorption of bone releasing Calcium from bone into blood because of defective PTH receptor .

*Also Phosphate levels increased in blood as PTH normally cause Phosphate Excretion through kidney no PTH action no Excretion of phosphate so increased Phosphate .

*As PTH is secreted from Parathyroid glands and it is normal so PTH is secreted more and more because of resistance to PTH receptor and blood levels of PTH is Increased

Disease Calcium in blood Phosphate in blood PTH levels in blood
Parathyroidism Decreased Increased Decreased
Pseudoparathyroisism Decreased increased Increased

2 Types of Parathyroidism 1) Type 1 A

1. Type 1 a will have Bone mineral changes

2. IT causes Albright Hereditary Osteodystrophy

3.Characterised by short stature,round facies,Mental retardation,Short 4 th Metacarpal>>>Metatarsals

2) TYPE 1 B won't have any Bone mineral changes .

Know the answer?
Your Answer:

Post as a guest

Your Name:

What's your source?

Earn Coins

Coins can be redeemed for fabulous gifts.

Not the answer you're looking for?
Ask your own homework help question
Similar Questions
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.)
Cystic fibrosis is an autosomal recessive disorder caused by a loss-of-function mutation in a chlorine channel,...
Cystic fibrosis is an autosomal recessive disorder caused by a loss-of-function mutation in a chlorine channel, which causes a thickening of the mucus, leading to respiratory failure. This disease affects approximately 1 in 1353 newborns in the Republic of Ireland every year. Fill in the following values: p = q = Current population of Ireland is approximately 4.8 million. Based on the allele frequencies that you calculated, what is the expected number of cystic fibrosis carriers (heterozygotes) in Ireland? Show...
Part A: The MC1R (melanocortin 1 receptor) gene is responsible for normal pigmentation of skin in...
Part A: The MC1R (melanocortin 1 receptor) gene is responsible for normal pigmentation of skin in humans and controls which kind of melanin is made by skin cells, eumelanin and/or pheomelanin. Melanin serves as a cover for the cells so harmful UV rays cannot reach the nucleus and cause mutation, but also protects folate, a type of B vitamin essential in growth and metabolism. However, there are two sides to this story: exposure to sunlight is required to convert calcium...
Considering the phenotype of HUMAN WEBBED FEET & generate THREE distinct hypotheses about what gene (or...
Considering the phenotype of HUMAN WEBBED FEET & generate THREE distinct hypotheses about what gene (or type of gene) is being affected in this patient (meaning I want three different genes). Record the gene (or type of gene) and the nature of the mutation (loss-of-function, gain-of-function, a type of regulatory mutation (be specific as to the type of regulatory mutation), etc.). Explain WHY you think mutations in these genes would lead to the defect shown. Base your answers off of...
1. 1,25-Dihydro vitamin D... (a) Synthesis occurs in the skin (b) Increases osteoclast-mediated resorption of mineralized...
1. 1,25-Dihydro vitamin D... (a) Synthesis occurs in the skin (b) Increases osteoclast-mediated resorption of mineralized bone (c) Signals renal calcium reabsorption via activation of nuclear receptors (d) Works in a cooperative fashion with calcitonin to increase plasma calcium levels (e) All of the above are correct 2. A man has a kidney disorder that causes him to have higher-than-normal renal excretion of calcium. Which of the following hormones would be elevated in his blood to normalize his blood calcium...
1)Tyrosinemia II and alkaptonuria are both autosomal recessive conditions involving the loss of function of an...
1)Tyrosinemia II and alkaptonuria are both autosomal recessive conditions involving the loss of function of an enzyme in the metabolic pathway that breaks down dietary protein. If a person with tyrosinemia II and a person with alkaptonuria have a child together, what will the phenotype of the child be? 2) Say you have deduced that a particular genetic disorder is caused when the body cannot produce a particular enzyme, encoded by gene ABC. Therefore you compare gene ABC’s nucleotide sequence...
In patient 3, a transposon inserted itself into exon 3 of the phosphodiesterase. (1) what molecular...
In patient 3, a transposon inserted itself into exon 3 of the phosphodiesterase. (1) what molecular biology technique will you use to identify this issue {You can’t use the same technique more than once so check them all first to make sure you divide up the techniques correctly!}, (2) will you be analyzing RNA, DNA, or protein for this technique, (3) what tissue or organ will you isolate for this technique and (4) why are you using this tissue or...
Question 16 Question text The bones in the skull have many different names but what are...
Question 16 Question text The bones in the skull have many different names but what are the boundaries of each bone? Where do they start and stop? Select one: A. The boundaries are indistinct and are simply vague generalized regions. B. Boundaries for skull bones are seen only in the infant skull. C. Bones of the skull are continuous but named for their specific markings. D. Bones of the skull are separated by immobile joints called sutures. Question 17 Question...
QUESTION 1 ? What is the relationship between family dysfunction and schizophrenia? a. ?Research has substantiated...
QUESTION 1 ? What is the relationship between family dysfunction and schizophrenia? a. ?Research has substantiated a link between family dysfunction and schizophrenia but can't say which causes the other. b. ?Family dysfunction is a major causative factor for schizophrenia. c. ?Research has failed to substantiate a direct causal link between family dysfunction and schizophrenia. d. ?Family dysfunction plays a minor role in developing schizophrenia. 1.00000 points    QUESTION 2 ? Chuck has no life plan; he simply lives from...
Question 38 Gluconeogenesis, the formation of glucose from fats and proteins, is due to the action...
Question 38 Gluconeogenesis, the formation of glucose from fats and proteins, is due to the action of ________. Select one: A. secretin B. cortisol C. insulin D. aldosterone Question 39 Normal development of the immune response is due in part to hormones produced by the ________. Select one: A. pancreas B. thymus gland C. thyroid gland D. adrenal medulla Question 40 Most amino acid-based hormones exert their signaling effects through intracellular ________. Select one: A. nucleotides B. calcium C. second...
ADVERTISEMENT
Need Online Homework Help?

Get Answers For Free
Most questions answered within 1 hours.

Ask a Question
ADVERTISEMENT