Genetics of Alzheimer's Disease

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Questions and Answers

What is the primary distinction between familial Alzheimer's disease (AD) and typical Alzheimer's disease in terms of genetic mutation effects?

Familial AD presents with more pronounced cognitive decline than typical AD.
Familial AD has indistinguishable effects on the brain compared to typical AD. (correct)
Familial AD occurs solely as a result of environmental factors.
Familial AD is associated with multiple genetic mutations while typical AD is not.

In familial Alzheimer's disease, what happens if one inherits a mutant gene from either parent?

There is a guaranteed development of late-onset AD.
The individual will develop early-onset AD. (correct)
The individual will not develop AD but may pass the gene to offspring.
The risk of developing AD decreases significantly.

Which of the following statements accurately describes the inheritance pattern of recessive genes in familial AD?

A recessive gene must be inherited from one parent to manifest its effects.
Recessive genes in familial AD do not affect the inheritance of the disorder.
Individuals with one copy of the recessive gene are symptomatic.
Symptoms appear only when two copies of the recessive gene are inherited. (correct)

What role do dominant and recessive genes play in the expression of Alzheimer's disease?

<p>Recessive genes can be carried without showing symptoms if only one copy is inherited. (D)</p> Signup and view all the answers

What is the likelihood of developing familial AD if one carries a dominant mutant gene?

<p>There is a 50% chance of developing early-onset AD. (D)</p> Signup and view all the answers

Flashcards

Dominant gene mutation

A condition where the characteristic is expressed even if only one copy of the faulty gene is inherited. An example would be if a person inherits one faulty gene in the APP, PSEN1, or PSEN2 genes, they will definitely develop early-onset Alzheimer's disease.

Recessive gene mutation

A condition where the faulty gene is only expressed if two copies of the gene are inherited. An example would be if a person inherits two copies of the faulty gene in APP, PSEN1, or PSEN2 genes, they will definitely develop early-onset Alzheimer's disease.

Familial Alzheimer's Disease

A type of Alzheimer's disease that is caused by mutations in the APP, PSEN1, or PSEN2 genes.

APP, PSEN1, PSEN2

The genes responsible for building proteins that are involved in making the beta-amyloid plaque in the brain.

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Gene copying

The process of copying a gene, where errors can occur and lead to mutations.

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Study Notes

Genetic Component of Alzheimer's Disease (AD)

Familial AD is a rare form of AD with similar brain effects as sporadic AD.
Rapid accumulation of beta-amyloid is linked to genetic mutations causing abnormal proteins in beta-amyloid plaques.
Humans have 23 pairs of chromosomes, one from each parent.
Early-onset AD (EOAD) differs from late-onset AD (LOAD) in genetic patterns.

Early-Onset AD (EOAD) vs. Late-Onset AD (LOAD)

EOAD often involves dominant genes, meaning one faulty gene copy from either parent is sufficient for expression.
A mutation occurs when a gene is copied incorrectly.
A dominant mutant gene's effect is seen in the organism (phenotype).
A recessive gene's effect is only observed if the person inherits two faulty gene copies. Carriers (with one faulty copy) are healthy but carry the gene.
There's a specific gene association (a link) between familial AD (FAD) and three mutations in three different genes.
In FAD, inheriting a mutant gene from either parent leads to EOAD.
This means a 50% chance of inheriting a mutant gene and subsequently developing EOAD.

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Description

This quiz delves into the genetic components of Alzheimer's Disease, focusing on the differences between early-onset and late-onset forms. It covers the role of beta-amyloid accumulation and the influence of specific mutations on disease manifestation. Test your understanding of familial Alzheimer's and the genetic patterns associated with it.