Beth and her husband are excited to have their first child and start a family. Beth talked to her doctor about getting pregnant, and her
Beth and her husband are excited to have their first child and start a family. Beth talked to her doctor about getting pregnant, and her doctor recommended she get screened for Tay-Sachs disease beforehand. The doctor said Tay-Sachs disease is something she and her husband could pass on to their child if they are carriers. It results from a mutation in the gene for a lysosomal enzyme, and it is, unfortunately, deadly. The doctor said genetic screening has helped to make this disease relatively rare among newborns today, but Beth is still confused about what the disease is.
Questions
1. Given what you know about cellular organelles, what problems do you predict a cell would have if it had a defect in a “lysosomal enzyme”?
2. Describe how a lysosomal enzyme would normally be created, beginning with the gene in the nucleus encoding the enzyme. Include the steps involved and the organelles that contribute to creating the enzyme.
