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Ch. 9 - Extranuclear Inheritance
Klug - Concepts of Genetics  12th Edition
Klug12th EditionConcepts of Genetics ISBN: 9780135564776Not the one you use?Change textbook
Chapter 9, Problem 14

Mitochondrial replacement therapy (MRT) offers a potential solution for women with mtDNA-based diseases to have healthy children. Based on what you know about the importance of nuclear gene products to mitochondrial functions, will MRT ensure that children will not inherit or develop a mtDNA-based diseases?

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1
Understand the concept of mitochondrial replacement therapy (MRT): MRT involves replacing defective mitochondria in an egg or embryo with healthy mitochondria from a donor. This technique is used to prevent the transmission of mitochondrial DNA (mtDNA)-based diseases.
Recognize the role of nuclear genes in mitochondrial function: Mitochondria rely on both their own mtDNA and nuclear-encoded genes for proper functioning. Nuclear gene products, such as proteins, are essential for mitochondrial processes like energy production and maintenance.
Analyze the inheritance pattern of mtDNA: mtDNA is maternally inherited, meaning it is passed down exclusively from the mother. MRT replaces the defective mtDNA with donor mtDNA, which can prevent the transmission of mtDNA-based diseases.
Consider the limitations of MRT: While MRT addresses mtDNA defects, it does not alter nuclear DNA. If the mother carries mutations in nuclear genes that affect mitochondrial function, these mutations can still be passed to the child and potentially lead to mitochondrial dysfunction.
Conclude that MRT reduces but does not eliminate the risk: MRT significantly reduces the risk of mtDNA-based diseases by replacing defective mtDNA. However, it does not guarantee that the child will be free from mitochondrial dysfunction, as nuclear gene mutations can still play a role.

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Key Concepts

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

Mitochondrial DNA (mtDNA)

Mitochondrial DNA is the genetic material found in mitochondria, the energy-producing organelles in cells. Unlike nuclear DNA, mtDNA is inherited maternally and is crucial for encoding proteins essential for mitochondrial function. Mutations in mtDNA can lead to various mitochondrial diseases, affecting energy production and overall cellular health.
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Nuclear Gene Products

Nuclear gene products refer to proteins and other molecules encoded by nuclear DNA that are essential for cellular functions, including those in mitochondria. Many mitochondrial proteins are synthesized in the cytoplasm and imported into mitochondria, meaning that nuclear genes play a critical role in mitochondrial health. Understanding the interplay between nuclear and mitochondrial genes is vital for assessing the effectiveness of therapies like MRT.
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Mitochondrial Replacement Therapy (MRT)

Mitochondrial Replacement Therapy is a reproductive technology designed to prevent the transmission of mtDNA diseases from mother to child. It involves replacing defective mitochondria in an egg or embryo with healthy mitochondria from a donor. While MRT can reduce the risk of mtDNA diseases, it does not address potential nuclear gene contributions to mitochondrial function, meaning that children may still be at risk for other genetic conditions.
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Related Practice
Textbook Question

Consider the case where a mutation occurs that disrupts translation in a single human mitochondrion found in the oocyte participating in fertilization. What is the likely impact of this mutation on the offspring arising from this oocyte?

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Textbook Question

What is the endosymbiotic theory, and why is this theory relevant to the study of extranuclear DNA in eukaryotic organelles?

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Textbook Question

Earlier, we described CC, the cat created by nuclear transfer cloning, whereby a diploid nucleus from one cell is injected into an enucleated egg cell to create an embryo. Cattle, sheep, rats, dogs, and several other species have been cloned using nuclei from somatic cells. Embryos and adults produced by this approach often show a number of different mitochondrial defects. Explain possible reasons for the prevalence of mitochondrial defects in embryos created by nuclear transfer cloning.

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Textbook Question

The specification of the anterior–posterior axis in Drosophila embryos is initially controlled by various gene products that are synthesized and stored in the mature egg following oogenesis. Mutations in these genes result in abnormalities of the axis during embryogenesis. These mutations illustrate maternal effect. How do such mutations vary from those produced by organelle heredity? Devise a set of parallel crosses and expected outcomes involving mutant genes that contrast maternal effect and organelle heredity.

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Textbook Question

The maternal-effect mutation bicoid (bcd) is recessive. In the absence of the bicoid protein product, embryogenesis is not completed. Consider a cross between a female heterozygous for the bicoid alleles (bcd⁺/bcd⁻) and a male homozygous for the mutation (bcd⁻/bcd⁻).

Predict the outcome (normal vs. failed embryogenesis) in the F₁ and F₂ generations of the cross described.

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Textbook Question

The maternal-effect mutation bicoid (bcd) is recessive. In the absence of the bicoid protein product, embryogenesis is not completed. Consider a cross between a female heterozygous for the bicoid alleles (bcd⁺/bcd⁻) and a male homozygous for the mutation (bcd⁻/bcd⁻).

How is it possible for a male homozygous for the mutation to exist?

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