What are the two major microtubular motor proteins? Which does anterograde axonal
transport, which does retrograde axonal transport? ------Correct Answer-------Kinesin,
Dynein
Kinesin: Anterograde
Dynein: Retrograde`
What do you think, immunologically speaking, when you see someone with recurrent
Neisseria infections? ------Correct Answer-------Inability to form the membrane attack
(MAC) complex
this is a common complement deficiency
What is the defect in Chronic Granulomatous disease? What is the pathophysiology? ---
---Correct Answer-------NADPH Oxidase deficiency leads to the inability to kill
intracellular organisms
Characteristic triad of ataxia telangiectasia? ------Correct Answer-------cerebellar ataxia,
telangiectasias, increased risk of sinopulmonary infections
What is the major immune deficiency of ataxia telangiectasia? ------Correct Answer-------
IgA deficiency, which predisposes to infections of the upper and lower airways (and
other mucous membranes)
There's a useful mnemonic for Ataxia Telangiectasia and the gene that's mutated. What
is it? ------Correct Answer-------ATM
Ataxia
Telangiectasia
Mutated
ATM gene is responsible for DNA break repair
What is one reason that lead intoxication causes hypochromic anemia? ------Correct
Answer-------Mitochondrial iron transport is important for Heme synthesis! It's inhibited
by lead. So you don't make heme in your mitochondria and you get hypochromic
anemia.
What is the biochemical problem in Lesch-Nyhan syndrome? (And, only if you got that
right, what are the really cool symptoms of it?) ------Correct Answer-------Defective
purine catabolism, so buildup of purines. It's an X-linked recessive disorder with
mutated HGPRT gene (hypoxanthine-guanine phosphoribosyltransferase, if you want to
impress people).
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