ILA Flashcards
What is a single nucleotide polymorphism?
It is the most common type of genetic variation where a single nucleotide or base is substituted in a strand of DNA.
What is the sickle cell mutation?
GAG is mutated to GUG (this is the rna), changing the amino acid from Glutamate to valine
How does a functional change in protein cause external manifestations of disease?
When a critical concentration of misfolded proteins is reached in the cell, aggregates are formed which would lead to the formation of amloids.
When amyloids build up in organs and tissues and form plaques, it would impair them from working properly, leading to diseases. (e.g. plaque build up in the carpal tunnel. which can cause carpal tunnel syndrome)
What is myasthenia gravis
Occurs when antibodies block, alter or destroy receptors for acetylcholine at the neuromuscular junction, preventing acetylcholine from binding to receptors, thus preventing muscles from contracting.
most commonly affetcts the eyes, eyelids, chewing, swallowing and speaking
What are the 2 types of sensory receptors and what are their functions?
Tonic- slow adapting receptors and thus have the purpose of conveying information about the presence and strength of a stimulus (produces a continuous frequency of action potentials in response to continuous stimulation)
Phasic- rapidly adapting receptors that have the purpose of conveying information about the rate of change of a stimulus (produces action potentials when there is a stimulus, but stop responding when there is continuous stimulation)
What are merkel’s discs and meissner’s corpuscles? Pacinian corpuscle
Where are they found?
They are mechanoreceptors
Merkel’s discs- tonic receptors that respond to pressure (high acuity for an object’s physical features like texture, shape, edges) –> highly abundant in the fingertips and lie superficially in the dermis of the skin
Meissner’s corpuscles–They are phasic receptors responsible for transmitting sensations of fine discriminative touch and vibration (lies just below the epidermis on the dermal papillae)
Pacinian corpuscle- most abundant phasic receptor –> responds to deep pressure and vibration that are responsible for proprioception
How many nephrons per kidney?
1 million
What are mesangial cells?
They provide support for the glomerular tuft.
What is pre renal, renal and post renal acute kidney injury?
Acute kidney injury- Defined as a sudden and rapid decline in kidney function
(can be caused by decreased urine output, increase in waste products in the blood, etc)
Pre renal- A sudden reduction blood flow to the kidneys (hypotension, oedema, severe cardiac failure, volume depletion due to diarrhoea or vomiting)
Renal- Direct damage to the kidneys (glomerular disease, tubular injury)
Post renal- Obstruction in the urinary tract (blood clot, kidney stones, bladder tumour)
Common causes of chronic renal failure
Diabetes
High blood pressure
Family history of kidney disease
Obesity
Smoking
What are some complications of chronic renal failure? (long term condition where kidney doesn’t work well)
1) Fluid retention (due to loss of filtering abilities, fluid builds up in tissues which could lead to oedema)
2) Hyperkalemia
3) Cardiovascular disease (Kidney helps regulate blood pressure via the RAAS system)
4) Weak bones and increased risk of bone fractures (the kidneys regulate the amount of calcium and phosphate in the blood)
