Human Heredity: Principles and Issues
Human Heredity: Principles and Issues
11th Edition
ISBN: 9781305683952
Author: Michael Cummings
Publisher: Cengage Learning US
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Chapter 18, Problem 6QP
Summary Introduction

To determine: The type of mutation which causes Huntington disease.

Introduction: Accumulation of misfolded proteins in the brain can lead to brain cell death and can cause several neurodegenerative disorders. Huntington disease (HD) is a neurodegenerative disorder which is inherited as an autosomal dominant trait. Cognition inability, emotional problems, and uncontrolled movements are the symptoms of HD.

Summary Introduction

To determine: The result of this mutation that results in neurodegeneration.

Introduction: Accumulation of misfolded proteins in the brain can lead to brain cell death and can cause several neurodegenerative disorders. Huntington disease (HD) is a neurodegenerative disorder which is inherited as an autosomal dominant trait. Cognition inability, emotional problems, and uncontrolled movements are the symptoms of HD.

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Explain: Healthy Cell Function Overview→ Briefly describe how a healthy cell usually works: metabolism (ATP production), pH balance, glycogen storage, ion transport, enzymes, etc. Gene Mutation and Genetics Part→ Focus on the autosomal recessive mutation and explain: How gene mutation affects the cell. How autosomal inheritance works. Compare the normal and mutated gene sequences simply. → Talk about possible consequences of a faulty hydrolytic enzyme.
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Explain down bellow what happens to the cell: Decreased pH in mitochondria Increased ATP Decreased pH in cytosol Increased hydrolysis Decreasing glycogen and triglycerides Increased MAP kinase activity Poor ion transport → For each one:→ What normally happens?→ What is wrong now?→ How does it mess up the cell?
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Mitochondrial mutations; Author: Useful Genetics;https://www.youtube.com/watch?v=GvgXe-3RJeU;License: CC-BY