If you were to look up Gaucher disease on the OMIM website, you would see that there are three major types, designated Type I (OMIM 230800), Type II (OMIM 230900), and Type III (OMIM 231000). All three types are mutations of the gene for acid-β-glucosidase, encoded on chromosome 1. Different mutations of this gene produce the three types of Gaucher disease that differ somewhat in their symptoms and disease severity.
For each mutation, speculate about whether the acid-β-glucosidase enzyme is merely reduced in function or whether its production is eliminated, and explain why.

Question

If you were to look up Gaucher disease on the OMIM website, you would see that there are three major types, designated Type I (OMIM 230800), Type II (OMIM 230900), and Type III (OMIM 231000). All three types are mutations of the gene for acid-β-glucosidase, encoded on chromosome 1. Different mutations of this gene produce the three types of Gaucher disease that differ somewhat in their symptoms and disease severity.
For each mutation, speculate about whether the acid-β-glucosidase enzyme is merely reduced in function or whether its production is eliminated, and explain why.

For each mutation, speculate about whether the acid-β-glucosidase enzyme is merely reduced in function or whether its production is eliminated, and explain why.

Accepted Answer

Welcome back, everyone. Here's the next question. Point mutations are changes to a single mut, single nucleotide within a DNA sequence. Which of the following is a possible consequence of a point mutation choice. A formation of a new protein B, alteration of protein function C in activation of a protein or D all of the above. Well, as we think this through, we think about the fact that even though we're just changing a single nucleotide, the changing of a single nucleotide can result in a change of codon. So just one single base different can change the code on which will change and amino acid in the protein sequence that can have small or drastic effects depending on how different the new amino acid is from the original one. So if you had a small nonpolar amino acid and the new amino acid is large and charged, that's going to have a big effect on the structure of the protein. Because those 3d protein structures depend on interactions between the different amino acids. So that can disrupt hydrogen bonding, um disulfide bonding. Other things like that, even the very size of the amino acid, something small versus something large can interfere with the structure at crucial points. We can think about how hemophilia is caused by a single point mutation that affects the shape of the entire red blood cell. So we definitely can see big effects from the result of a single point mutation. In addition, as well as changing amino acid, a change of codon could also insert a premature stop codon. So if it's just the right kind of base pair change, you could change an amino acid codon into a stop codon, terminating the protein and activating it, cutting it off before it's done being synthesized. So with that in mind, let's look at our answer. Choices, a formation of a new protein. If that change is drastic enough, we could have a completely new protein doing something different. So that's definitely a possibility. I'm just marking that with a dot Rather than selecting it as our answer, since we do have that possibility. D all of the above choice B alteration of protein function. Absolutely. This can be a possible consequence. Um Depending on how much we change the protein, it might no longer be able to perform its function, but it might perform it in a heightened way, maybe higher activity than it usually has or lower activity. So also a possibility and then finally see in activation of a protein, definitely, um if we insert a premature stop codon would be a pretty uh definite way of inactivating a protein. But again, even just changing the structure enough that it can no longer perform its function. So our answer here is going to be choice D all of the above as possible consequences of a point mutation. See you on the next video.

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Key Concepts

Gene Mutations and Their Effects on Protein Function

Genotype-Phenotype Correlation in Genetic Diseases

Role of Acid-β-Glucosidase in Gaucher Disease