Core: 506/600 Question Value: 3 Tay-Sachs disease symptoms include retardation, blindness, paralysis, and early death. What is the cause of Tay-Sachs disease? an overactive form of phospholipase A that too rapidly degrades glycerophospholipids a defective lipid synthesis enzyme that causes the absence of the fatty acid unit on the sphingomyelins an improper ratio of saturation/unsaturation in plasma membrane lipids a lack of the enzyme hexosaminidase A which causes a buildup of partially degraded gangliosides in the brain and spleen
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Step 1: Note the key symptoms (mental retardation, blindness, paralysis, early death) and their early onset — this pattern suggests a lysosomal storage disorder causing accumulation of undegraded lipids in neurons. Show more…
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In many genetic disorders, a lysosomal enzyme required to degrade a specific molecule is missing or defective. One example of these maladies, often referred to as lysosomal storage diseases, is Tay-Sachs disease. Afflicted individuals inherit a defective gene from each parent that codes for an enzyme that degrades a complex lipid molecule. Symptoms include severe mental retardation and death before the age of 5 years. What is the nature of the process that is destroying the patient's cells?
Dominador T.
Tay-Sachs disease is a disorder characterized by an accumulation of fatty substances called gangliosides in the brain and spinal cord. One cause of the disease is a mutation in the gene sequence that codes for the enzyme hexosaminidase. The enzyme is rendered nonfunctional when a single amino acid, glutamine, is incorporated into the enzyme instead of an arginine. In this scenario, what is the cause of Tay-Sachs disease?
Sri K.
Tay-Sachs is a genetic disease in which an enzyme for breaking down lipids is absent or inactive. Because of this, hydrolysis of the lipids does not occur and these lipids build up in the brain, leading to loss of function and eventually death. Which organelles may have some involvement with this disease? A. The nucleus, because it stores the genetic information for how to make the enyzme. B. The lysosome, because it is the organelle that normally contains the hydrolytic enzyme to break down the lipids. C. The ribosome, because it normally makes proteins (including hydrolytic enzymes) D. Based on the information given, all of the above may be involved directly or indirectly with the disease.
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