Table of contents

1. Introduction to Genetics51m
2. Mendel's Laws of Inheritance3h 37m
3. Extensions to Mendelian Inheritance2h 41m
4. Genetic Mapping and Linkage2h 28m
5. Genetics of Bacteria and Viruses1h 21m
6. Chromosomal Variation1h 48m
7. DNA and Chromosome Structure56m
8. DNA Replication1h 10m
9. Mitosis and Meiosis1h 34m
10. Transcription1h 0m
11. Translation58m
12. Gene Regulation in Prokaryotes1h 19m
13. Gene Regulation in Eukaryotes44m
14. Genetic Control of Development44m
15. Genomes and Genomics1h 50m
16. Transposable Elements47m
17. Mutation, Repair, and Recombination1h 6m
18. Molecular Genetic Tools19m
- Genetic Cloning
  9m
- Methods for Analyzing DNA
  9m
19. Cancer Genetics29m
- Overview of Cancer
  21m
- Cancer Mutations
  7m
20. Quantitative Genetics1h 26m
21. Population Genetics50m
- Hardy Weinberg
  19m
- Allelic Frequency Changes
  31m
22. Evolutionary Genetics29m

11. Translation

Proteins

Genetics

11. Translation

Proteins

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2:18 minutes

Problem 14

Textbook Question

Early detection and adherence to a strict dietary regimen have prevented much of the intellectual disability that used to occur in those with phenylketonuria (PKU). Affected individuals now often lead normal lives and have families. For various reasons, such individuals tend to adhere less rigorously to their diet as they get older. Predict the effect that mothers with PKU who neglect their diets might have on newborns.

Verified step by step guidance

Understand that phenylketonuria (PKU) is a genetic disorder caused by a deficiency in the enzyme phenylalanine hydroxylase, leading to the accumulation of phenylalanine in the body.

Recognize that high levels of phenylalanine are toxic to the brain and can cause intellectual disabilities if not managed through a strict diet low in phenylalanine.

Consider that during pregnancy, a mother with PKU who does not adhere to her dietary restrictions can have elevated levels of phenylalanine in her blood.

Realize that high maternal phenylalanine levels can cross the placenta and affect the developing fetus, potentially leading to congenital disabilities and intellectual disabilities in the newborn, a condition known as maternal PKU syndrome.

Conclude that it is crucial for mothers with PKU to maintain a strict diet before and during pregnancy to prevent adverse effects on their newborns.

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Key Concepts

Here are the essential concepts you must grasp in order to answer the question correctly.

Phenylketonuria (PKU)

Phenylketonuria (PKU) is a genetic disorder caused by a deficiency in the enzyme phenylalanine hydroxylase, which is necessary for metabolizing the amino acid phenylalanine. When individuals with PKU consume foods high in phenylalanine, it accumulates in the body, leading to severe neurological damage and intellectual disabilities if not managed through a strict low-phenylalanine diet.

Maternal PKU and Teratogenic Effects

Maternal PKU refers to the condition where a woman with PKU becomes pregnant and does not adhere to her dietary restrictions. High levels of phenylalanine during pregnancy can cross the placenta, potentially leading to teratogenic effects on the developing fetus, including cognitive impairments, growth deficiencies, and other serious health issues.

Dietary Management and Long-term Outcomes

Dietary management in PKU involves strict adherence to a low-phenylalanine diet, especially during critical periods such as pregnancy. Failure to maintain this diet can result in elevated phenylalanine levels, which can adversely affect both the mother's health and the newborn's development, leading to increased risks of intellectual disabilities and other complications.

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How do we know that the structure of a protein is intimately related to the function of that protein?

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Describe the gene and protein defects in phenylketonuria (PKU). How are these defects connected to disease symptoms?

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Why is an alteration of electrophoretic mobility interpreted as a change in the primary structure of the protein under study?

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Define and describe the differences in the primary, secondary, and tertiary structures of a protein.

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