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Old 12-11-2012
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Skin Molecular Basis of Skin Blistering!

A 23 yr old woman has skin blistering that result from point mutatoin in a gene. Epidermal cell in this patient become frgaile and rupture. which of following is the most likely effect of gene mutation?

A Defective transport of vesicle from centrome to cell membrane
B Disrupted assembly of keratin into intermediate filament
C lack of GTP required to form polymer of tubulin
D Phosphorylation of actin monomer to promote polymerization
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Old 12-12-2012
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My choice is B. The patient appears to be suffering from Pemphigus Vulgaris? Keratin(which is an intermediate filament) is supposed to attach to the Cadherins at the level of the Macula adherens(desmosomes).

Not too sure about this. Does anyone have a different opinion?
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Old 12-13-2012
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This a tough question?
Is it D?
Gene defect in actin to promote polymerization?
Macula adherens (desmosomes) are whats effected in pemphigus vulgaris.
Adherens are part of the cytoskelton.
If defective cytoskeleton can't hold together.

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Histology-, Molecular-Biology-, Pathology-, Skin-, Step-1-Questions

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