Cellular accumulations

Question 1

EX of glycogen accumulation

Answer 1

Goche’s disease

Question 2

amyloidosis

Answer 2

clinical disorder caused by insoluble amyloid fibrils that alter the normal function of tissues

usually in heart, brain, kidney, blood-vessel walls

Question 3

EX of heavy metal accumulation

Answer 3

hereditary hemochromatosis - abnormal accumulation of iron leading to organ toxicity via free radicals

caused by mutation in HFE gene (most common autosomal recessive disorder) -> too much iron absorption

classic triad: cirrhosis, hyper pigmentation, DM

Question 4

EX of pigment accumulation

Answer 4

lipochrome/wear-and-tear/aging pigment

Question 5

SAA is made in which states

Answer 5

inflammatory

Question 6

How does mutation cause formation of Amyloid?

Answer 6

transthyretin is mutated -> causes aggregation of transthyretin proteins -> ATTR protein

Question 7

what is the difference in production of non-amyloidogenic versus amyloidogenic APP protein?

Answer 7

non-amyloidogenic APP is a result of APP cleaved by a-secretase and y-secretase into 3 soluble fragments

amyloidogenic APP (AB peptide) is a result of APP cleavage by B-secretase and y-secretase into insoluble fragments called AB protein aggregates that make amyloid fibrils

Question 8

rogue prion proteins can do what?

Answer 8

convert normal prion proteins into rogue proteins/ones with B-sheets

Question 9

Dystrophic calcification

Answer 9

deposit of calcium from serum in dead/necrotic tissue b/c it binds to abundant phosphate in this tissue. EX in aortic valves after atherosclerosis occurs and kills tissue, in tumors

Question 10

Metastatic calcification

Answer 10

deposition of calcium in previously normal tissue due to hypercalcemia

Associated with: hyperparathyroidism, bond destruction, VitD excess, renal failure/phosphate retention (most common)