4 learning scenarios. Tay-Sachs disease is a deadly disease resulting from a mut
ID: 85167 • Letter: 4
Question
4 learning scenarios. Tay-Sachs disease is a deadly disease resulting from a mutation in the gene for a lysosomal enzyme. Given what you know about cellular organelles, what problems do you predict a cell would have if it suffered from a defect in a lysosomal enzyme? Describe how a lysosomal enzyme would normally be created, including the steps involved and the organelles that contribute to the process. Nancy's dermatologist biopsied a mole on her skin to determine if it was cancerous. Describe the tissues the doctor should see in the sample, assuming Nancy does not have skin cancer. Nancy's doctor determines that the cells in the mole on her skin are not producing Cell Adhesion Molecules (CAMs). Would this make the cells more or less likely to metastisize?Explanation / Answer
Lysosomal enzyme activity is closely linked to cellular function. When there is a defect in a lysosomal enzyme, the rate of intralysosomal accumulation of the substrates of that enzyme will depend upon the normal load of those substrates presented to the lysosomes of each cell type and upon the amount of residual enzymatic activity. The amount of residual activity required to prevent storage from occurring will depend on the load and the solubility of the substrate.
The lysosomal enzymes undergo specific and essential post-translational modification en route from their site of synthesis on ribosomes associated with rough ER to their site of action i.e. lumen of the lysosome. This includes the removal of an N-terminal signal peptide, and the asparagine linked glycosylation in the ER, processing of the N-linked glycans and acquisition of mannose-6-phosphate lysosomal recognition marker in the golgi apparatus and partial proteolysis to form the active conformation.
The tissue commonly found in the mole include epidermis, dermis having squamous cells and melanocytes.
Cell adhesion molecules (CAM) have a significant role in cancer progression and metastasis. CAM interactions with the endothelium determine the metastatic spread.
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