(a) Name the defective enzyme (you will have to do some detective work). (b) Write out the reaction catalyzed by the defective enzyme (use structural formulas). What is the stoichiometry? (c) Assume that you have identified the defective enzyme. Assume that you have a polyclonal antibody to that enzyme from normal persons. Using the antibody, you find no evidence that the enzyme is expressed in liver cells of your patient; in a liver cell from a normal person, however, the antibody would show that the enzyme was expressed. Assume that you know the sequence of the gene encoding for the enzyme in a normal person and also the sequence of the gene in your patient. Here is a portion of the gene sequence: Codon no. Normal person: Your patient: 309 310 311 312 GCC TCT CTG GGT GCC TCT CCG GGT Propose as to why the observed change (mutation) could lead to the missing enzyme.
(a) Name the defective enzyme (you will have to do some detective work). (b) Write out the reaction catalyzed by the defective enzyme (use structural formulas). What is the stoichiometry? (c) Assume that you have identified the defective enzyme. Assume that you have a polyclonal antibody to that enzyme from normal persons. Using the antibody, you find no evidence that the enzyme is expressed in liver cells of your patient; in a liver cell from a normal person, however, the antibody would show that the enzyme was expressed. Assume that you know the sequence of the gene encoding for the enzyme in a normal person and also the sequence of the gene in your patient. Here is a portion of the gene sequence: Codon no. Normal person: Your patient: 309 310 311 312 GCC TCT CTG GGT GCC TCT CCG GGT Propose as to why the observed change (mutation) could lead to the missing enzyme.
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
Section: Chapter Questions
Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
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Transcribed Image Text:## Case Study
### Patient Information
- **Age:** 2 weeks old
- **Symptoms:** Elevated levels of phenylpyruvic acid, phenyllactic acid, and phenylacetic acid in urine. Elevated levels of phenylalanine in blood.
- **Lab Procedure:** Liver biopsy and cell-free extract from liver cells. Radioactive phenylalanine added with tetrahydrobiopterin tested.
#### Findings
- Production of radioactive tyrosine is only 1% of normal levels.
### Questions for Investigation
**(a)** Name the defective enzyme (requires further investigation).
**(b)** Write out the reaction catalyzed by the defective enzyme using structural formulas. What is the stoichiometry?
**(c)** Analysis of Defective Enzyme
- **Antibody Test:** No evidence of enzyme expression in patient liver cells. Normal expression in a healthy liver.
- **Gene Sequence Analysis:**
- **Codon Position:** 309, 310, 311, 312
- **Normal Person Sequence:** GCC TCT CTG GGT
- **Patient Sequence:** GCC TCT CCG GGT
**Propose a Hypothesis**
- Consider why the mutation observed in the gene sequence could result in the absence of the enzyme.
This study reviews a potential mutation impacting enzyme production related to phenylalanine metabolism, potentially leading to conditions like phenylketonuria (PKU).
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