Alzheimer's Disease Genetic and Pathological Heterogeneity

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Questions and Answers

What is the primary cause of the formation of plaques in the brain in Alzheimer's disease?

  • Deterioration of tau function
  • Loss of microtubule-binding protein tau
  • Excessive phosphorylation of tau
  • Abnormal accumulation of longer forms of Aβ (correct)

What is the role of phosphorylation of tau in Alzheimer's disease?

  • Reducing the expression of tau in neurons
  • Causing detachment from microtubules and accumulation into insoluble neurofibrillary tangles (correct)
  • Promoting stability and function of tau
  • Preventing the formation of neurofibrillary tangles

How is Alzheimer's disease diagnosis made in living humans nowadays?

  • Analysis of brain tissue after death
  • Comparison with 'non-Alzheimer's disease' individuals
  • Postmortem histology examination
  • Detection and quantification of Aβ, tau, and neurodegeneration biomarkers (correct)

What was revealed by the study mentioned in the text regarding individuals diagnosed with Alzheimer's disease?

<p>Heterogeneity in visualizations and mixed neuropathological phenotypes (B)</p> Signup and view all the answers

What is the range of age at death observed in the participants in the study mentioned in the text?

<p>65 to 108 years (A)</p> Signup and view all the answers

Which of the following is described as a biological domain linked to the development of Alzheimer's disease?

<p>RNA splicing (D)</p> Signup and view all the answers

What is the primary implication of genetic risk factors for Alzheimer's disease?

<p>Modification of disease progression only (C)</p> Signup and view all the answers

Disruption of which biological domain can have a direct impact on synapse loss and/or dementia?

<p>Immune function (D)</p> Signup and view all the answers

What is the influence of different combinations of risk factors on the biological domains involved in the pathogenesis of Alzheimer's disease?

<p>Significant influence (B)</p> Signup and view all the answers

What is thought to interact and differentially affect sets of biological domains related to Alzheimer's disease?

<p>Genetic and environmental factors (A)</p> Signup and view all the answers

What is a potential advantage of using iPSC monocultures in studying Alzheimer's disease?

<p>Quantifying the direct, cell-autonomous effects of genetically encoded influences (D)</p> Signup and view all the answers

What is a limitation of the in vitro human systems mentioned in the passage?

<p>They do not allow the assessment of behavioural and cognitive changes (A)</p> Signup and view all the answers

Which technology was used to generate mouse models carrying LOAD-associated variants in specific genes?

<p>CRISPR/Cas9 and the Cre/lox system (D)</p> Signup and view all the answers

What is the primary purpose of developing mouse models carrying novel combinations of genetic variants of LOAD risk?

<p>Studying the contribution of variations in specific genes to the function and dysfunction of biological domains (B)</p> Signup and view all the answers

What insight has been provided by the progeny of humanised APOE surrogate mouse lines crossed with humanised MAPT and APP/PSEN1 models?

<p>The role of APOE in AD pathogenesis (C)</p> Signup and view all the answers

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