Paper 3 Extra Knowledge

Question 1

Give a disorder related to skeletal muscle and how it arises/mechanism of action and symptoms:

Answer 1

-rhabdomyolysis
-direct/indirect muscle injury causes hydrolysis of skeletal muscle
-intracellular material such as electrolytes, creatine kinase and myoglobin are released into the bloodstream
-cause acute kidney injury, can lead to acute renal failure, massive necrosis manifested as limb weakness and myalgia

Question 2

Give a disorder related to synaptic transmission, including symptoms and MoA:

Answer 2

-botulism from botulinum toxin
-spores irreversibly bind to the presynaptic cholinergic receptors
-causes anticholinergic syndrome due to unopposed sympathetic nervous response
-causes tachycardia and weakness

Question 3

Give an example of an autoimmune disease that links with the second messenger system:

Answer 3

-Addison’s disease
-causes damage to the adrenal cortex
-disrupts the production of cortisol and aldosterone
-caused via antibodies that attack the adrenal cortex (or tuberculosis)
-causes loss of appetite and at risk for other disorders like pernicious anaemia.

Question 4

Give an example of a DNA-replicating related disorder and its symptoms

Answer 4

-Xeroderma pigmentosum
-autosomal recessive genodermatosis
- damaged XPC gene causes restriction endonuclease to be unable to detect damaged DNA
-severe sun sensitivity and malignant tumour formation

Question 5

Give a metabolic disorder and it’s symptoms

Answer 5

-AIP, acute intermittent porphyria
-metabolic disorder that affects the production of haem in the body
-causes abdominal pain, and some psychiatric symptoms such as paranoid-schizophrenia like symptoms