Tay-Sachs disease is a deadly disease resulting from a mutation in the gene for

Question

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? Why?

b) Find the x values of the points for the horizontal tangent line co Find the slope of the tangent line where x 1 d) Find the equation of the tangent line in general form where x

Explanation / Answer

1. Tay–Sachs disease results due to the mutation in a lysosomal enzyme hexosaminidase A which results in its inadequate activity. Hexosaminidase A is an important lysosomal hydrolytic enzyme, , which causes catalytic breakdown of glycolipids. The mutation in the gene leads to lipid accumulation in the brain aand thus disrupts biological functioning.

2. The formation of the lysosomes requires the synthesis of specialized lysosomal hydrolases and membrane proteins. Both classes of proteins are synthesized in the ER and transported through Golgi apparatus, the transported from the trans golgi network to an intermediate compartment (Endolysosome) by means of transport vesicles (coated by clathrin protein).The lysosomal enzyme are glycoproteins, containing N-linked oligosaccharides that are processed in a unique way in the cis-golgi so that their mannose residues are phosphorylated.These mannose-6-phosphate (M6P) groups are recognized by M6P-receptors which are (transmembrane proteins).In the trans golgi network that seggregates the hydrolases and helps to package them into budding clathrin coated vesicles which quickly loose their coats.These transport vesicles containing the M6P receptors act as shuttles that move the receptors back and forth between the trans golgi network and endolysosomes.The low pH in the endolysosome dissociates the lysosomal hydrolases from this receptor, making the transport of hydrolases unidirectional.The enzymes get packaged into vesicles for further transport to matured lysosomes.The late endosome itself can eventually grow into a mature lysosome.

3.Biopsy findings should not reveal any abnormal findings in the cells.

4.Absence of cell adhesion molecules will make a cell to have less chances to metastisize since these help the cancerous cells to exhibit striking property of getting adhered to other cells.

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