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Old 11-21-2014
Master shifu's Avatar
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Default Bio-Buzz Series 01

A 3 year old child present to a pediatrician with restricted joint movement. She is also noted to have coarse facial features and skeletal abnormalities. She is diagnosed with a rare condition and is enrolled in a research study, where a small tissue sample is taken for microscopic examination. On pathologic examination of the specimen, it is noted that there are characteristics inclusion bodies in the cytoplasm of the individual cells. These inclusion bodies stain positive for lysosomal proteins upon immunocytochemistry. Upon receiving the results of the tissue biopsy, the physician explain to the patients mother that her daughter disease is resulting from the aberrant intracellular targeting of proteins.

Which of the following biochemical steps is lacking with this patients??

A) Administration of a transpeptidase that localizes to the trans Golgi

B) Failure of targeting proteins from endocytosis to nucleus

C) Phosphorylation of the mannose residues at Cis Golgi

D) Phosphorylation of the mannose residues at Trans Golgi

E) Phosphorylation of the mannose residues at Endoplasmic reticulum

F) Synthesis of proteins in the rough Endoplasmic reticulum

(Try to Answer with explanation)
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Old 11-22-2014
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I-cell disease. If I recall correctly, cis golgi is responsible for targeting M-6-P to molecules that are destined to lysosomes while trans golgi is involved in exocytosis of these targeted molecules.
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