Nutrigenomics and Disease: Genetic Mutations
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Questions and Answers

Which statement accurately describes the role of allelic mutations in the context of measurable traits?

  • Allelic mutations have no direct impact on traits but may influence disease susceptibility.
  • Allelic mutations are only associated with traits in model organisms, not in humans.
  • Allelic mutations always lead to observable phenotypic variations. (correct)
  • Allelic mutations are primarily associated with traits related to metabolic disorders.

In the context of genomics, what does the term 'genomics' primarily encompass?

  • The study of individual genes and their specific functions.
  • The identification of novel genes with unknown functions in different species.
  • The comprehensive analysis of the amount, location, structure, and function of genes within an organism's genome. (correct)
  • The quantitative measurement of gene expression levels under various conditions.

What is the primary focus of basic research in the context of diseases like Alzheimer's and Parkinson's?

  • Identifying early biomarkers to predict the onset of diseases.
  • Developing pharmaceutical interventions to alleviate disease symptoms.
  • Conducting clinical trials to test the efficacy of novel therapies.
  • Investigating knock-out reactions to understand disease mechanisms. (correct)

How do mutations in the alpha-synuclein gene contribute to the development of Parkinson's disease?

<p>They cause misfolding and aggregation of alpha-synuclein, leading to the formation of Lewy bodies. (D)</p> Signup and view all the answers

What is the relationship between insulin resistance and Type II diabetes?

<p>Insulin resistance is closely linked to Type II diabetes and overweightness. (D)</p> Signup and view all the answers

What is the direct consequence of loss-of-function mutations in the genes along the insulin signaling pathway?

<p>Impaired ability of insulin to stimulate glucose uptake in cells. (D)</p> Signup and view all the answers

How does caloric restriction affect mTOR activity?

<p>Caloric restriction inhibits mTOR activity. (B)</p> Signup and view all the answers

What is the role of transcription factors in gene expression?

<p>To promote the expression of specific genes. (B)</p> Signup and view all the answers

Which of the following statements accurately describes the relationship between AMPK and cellular energy balance?

<p>AMPK acts as an energy sensor, activated during low energy states. (C)</p> Signup and view all the answers

How does mTOR activation relate to insulin and anabolic processes?

<p>mTOR is activated by insulin to induce anabolic processes. (A)</p> Signup and view all the answers

What is the consequence of mTOR deficiency in the context of caloric restriction?

<p>mTOR deficiency mimics caloric restriction in ad libitum fed model organisms. (A)</p> Signup and view all the answers

How can allelic mutations be utilized in gene function studies?

<p>Allelic mutations can be used as a method to investigate the functions of genes. (C)</p> Signup and view all the answers

Which statement accurately reflects the role of IRS1 and IRS2 in the pathogenesis of T2DM?

<p>The pathogenesis of T2DM is driven by a systemic dysregulation of IRS1 and IRS2. (D)</p> Signup and view all the answers

How do tissue-specific IR or IRS knockouts contribute to understanding T2DM?

<p>They mimic the tissue-specific metabolism of T2DM, offering insights into localized effects. (C)</p> Signup and view all the answers

How do forward-genetic screens aid in gene identification?

<p>Novel genes can be detected by forward-genetic screens. (D)</p> Signup and view all the answers

If a gene knockout results in a lethal phenotype, what phenotype would a knockdown of the same gene most likely produce?

<p>A milder phenotype than the knockout. (C)</p> Signup and view all the answers

What is the primary difference between a gene knock-down and a gene knock-out?

<p>A knock-down causes a more or less pronounced rest activity of the affected protein. (A)</p> Signup and view all the answers

Which of the following is essential for tissue-specific genetic complementation?

<p>A tissue-specific promoter sequence. (C)</p> Signup and view all the answers

Which of the following interventions is most likely to mimic caloric restriction in model organisms?

<p>mTOR deficiency. (D)</p> Signup and view all the answers

How do some components of the dietary restriction (DR) pathway interact with mTOR signaling to affect lifespan?

<p>They function in parallel to mTOR signaling, producing additive effects. (B)</p> Signup and view all the answers

Which of the following APOE isoforms is associated with reduced cardiovascular risk and improved healthspan?

<p>e2 / e3 (B)</p> Signup and view all the answers

At which amino acid positions are mutations located that influence APOE function?

<p>112 and 158 (A)</p> Signup and view all the answers

What combined factors are shown to increase lifespan when combined with the FOXOA1 variant?

<p>Social behavioral factors (D)</p> Signup and view all the answers

How does the intensity of a nutritional intervention along the insulin signaling pathway (ISP) affect its outcome?

<p>Mild interventions may be beneficial, while drastic interventions may be adverse. (A)</p> Signup and view all the answers

Which cellular process, crucial for neuronal survival during aging, is maintained by FOXO transcription factors?

<p>Maintenance of autophagy (B)</p> Signup and view all the answers

What is the initial event in the pathogenesis of Alzheimer's Disease (AD)?

<p>Senile plaque deposition (C)</p> Signup and view all the answers

What is the primary mechanism by which active FOXO3 protects against neurodegeneration?

<p>Increasing expression of mitochondrial E3 ubiquitin ligases (C)</p> Signup and view all the answers

What is the role of ubiquitination in protein degradation?

<p>It is required for most proteins to be degraded in the proteasome (D)</p> Signup and view all the answers

How does long-term caloric restriction (CR) affect amyloid expression in the brain?

<p>Significantly reduces cerebral amyloid expression and deposition (B)</p> Signup and view all the answers

How does the insulin signaling pathway influence neurodegenerative diseases?

<p>It has a major impact on neurodegenerative phenotypes, longevity, and diseases determined by the metabolic syndrome (D)</p> Signup and view all the answers

How does suppression of the PI3K-Akt-mTOR signaling pathway via caloric restriction (CR) affect PARKIN and PINK1 expression?

<p>Increases the expression of PARKIN and PINK1 (D)</p> Signup and view all the answers

What is a key characteristic shared by both Alzheimer's disease (AD) and Parkinson's disease (PD)?

<p>Both result from abnormal protein accumulation and aggregation (C)</p> Signup and view all the answers

In the context of neurodegenerative diseases, where does alpha-synuclein primarily accumulate, and in which condition is this most characteristic?

<p>Lewy bodies in Parkinson's Disease (PD). (A)</p> Signup and view all the answers

How does enhanced expression (overexpression) of the Amyloid Precursor Protein (ABPP) contribute to the pathogenesis of Alzheimer's Disease (AD)?

<p>It triggers increased production of ABPP isoforms, which can lead to ABPP accumulation. (A)</p> Signup and view all the answers

Why might the loss-of-function of ABPP not directly lead to the formation of AB plaques, Tau hyperphosphorylation, and cell death?

<p>The effect of such a drastic loss of ABPP is not generally well-tolerated and would have pleiotropic effects. (D)</p> Signup and view all the answers

What is the role of PINK1 in response to cellular stress, and through which transcription factor does it mediate its effects?

<p>Induces stress-induced autophagy via FOXO3a. (C)</p> Signup and view all the answers

What is the primary function of PPAR-gamma, and why is it not considered a key regulator of protein degradation?

<p>Regulation of lipid and glucose metabolism; it primarily influences metabolic processes. (B)</p> Signup and view all the answers

What type of genetic screen is best suited for identifying novel genes involved in a biological process?

<p>Forward genetic screens, as they allow for unbiased identification of genes based on phenotype. (D)</p> Signup and view all the answers

How do lysosomes facilitate the degradation of damaged proteins and toxins within the cell?

<p>By using catabolic processes to cleave proteins, lipids, and carbohydrates. (B)</p> Signup and view all the answers

How does the mammalian target of rapamycin (mTOR) signaling pathway affect lifespan, and what cellular process is enhanced by it?

<p>Reduces lifespan by increasing cell proliferation. (B)</p> Signup and view all the answers

In the context of Alzheimer's Disease (AD) pathogenesis, which brain areas are initially affected?

<p>Hippocampus and cortex (A)</p> Signup and view all the answers

What is the primary function of PARKIN in mitophagy?

<p>Recruiting PINK1 to enable the degradation of mitochondria (D)</p> Signup and view all the answers

Which of the following processes is directly facilitated by presenilin proteins?

<p>Proteolytic cleavage by the γ-secretase complex (A)</p> Signup and view all the answers

What is the effect of loss-of-function mutations in the KCNJ11 gene?

<p>Disruptions in insulin secretion (B)</p> Signup and view all the answers

What is the role of FOXO transcription factors in cellular metabolism?

<p>Transcriptional key regulators for genes involved in catabolic processes (B)</p> Signup and view all the answers

How does alternative splicing contribute to protein diversity?

<p>By generating different mRNA transcripts from one primary transcript (D)</p> Signup and view all the answers

How do intracellular branched-chain amino acids (BCAAs) affect AMPK and mTOR?

<p>Inhibit AMPK and activate mTOR (B)</p> Signup and view all the answers

What cellular condition does loss of mTOR activity mimic?

<p>Caloric restriction (A)</p> Signup and view all the answers

Flashcards

Nutrigenomics

The science explaining how genetic variations affect dietary responses.

Allelic mutations

Genetic alterations always linked to measurable traits (phenotypes).

Genomics

Study of the quantity, locations, structures, and functions of genes.

Basic research

Research focusing on fundamental aspects, not just practical applications.

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Type II diabetes

A condition closely related to insulin resistance and obesity.

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Insulin resistance (IR)

The condition where insulin's ability to promote glucose uptake is deteriorated.

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mTOR activity

A pathway that can be inhibited by caloric restriction.

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Transcription factors

Proteins that promote gene expression by binding to specific DNA sequences.

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mTOR Complex

A highly conserved protein complex involved in cellular growth and metabolism regulation.

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AMPK

An energy sensor in cells that helps regulate metabolic pathways.

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Type 2 Diabetes Pathogenesis

Characterized by dysfunction in insulin receptor signaling and excess fatty acid production.

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Genetic Screens

Methods used to identify genes and their functions through random mutations or specific pathways.

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Forward-Genetic Approaches

Techniques based on random mutagenesis to discover gene functions.

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Reverse-Genetic Approaches

Techniques that manipulate known genes to study their functions.

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Gene Knock-out

A genetic modification that results in the complete loss of function of a specific gene.

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Gene Knock-down

A genetic modification that reduces the expression of a specific gene without eliminating it.

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Knock-down vs Knock-out

Knock-down generates softer phenotypes; Knock-out results in lethal phenotypes.

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Tissue-specific genetic complementation

A genetic complementation that requires a tissue-specific promoter sequence.

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mTOR deficiency and caloric restriction

mTOR deficiency mimics caloric restriction in model organisms fed ad libitum.

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Active FOXO1 function

Active FOXO1 induces lifespan extension across many species.

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CR and mTOR activity

Caloric restriction can inhibit mTOR activity.

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APO-isoforms and cardiovascular risk

APO-isoforms e2/e2 and e2/e3 are linked to reduced cardiovascular risk.

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FOXO3A variants in centenarians

All FOXO3A variants are more frequent in centenarians than in 90-year-olds.

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Impact of mutations on insulin signaling pathway (ISP)

Effects of mutations or nutritional changes along ISP depend on their severity.

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FOXO Al variant

A genetic variant associated with increased lifespan when combined with social factors.

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FOXO 3A variants

Variants of FOXO 3A found more frequently in centenarians compared to those aged 90.

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ABPP mutations

Mutations in ABPP are sufficient for the onset of Alzheimer's Disease (AD).

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Alpha-synuclein role

Alpha-synuclein is involved in dopamine release in the brain.

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Lewy bodies

Clumps of alpha-synuclein found in the brains of patients, usually associated with Parkinson's Disease (PD).

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Ectopic ABPP-isoforms

Mutations causing abnormal expression of ABPP-isoforms in the brain.

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mTOR signaling pathway

A pathway that reduces lifespan by increasing cell proliferation.

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Forward genetic screens

Tools for discovering new genes, often used to identify genetic roles.

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mTOR Function

mTOR maintains normal lifespan and does not shorten it.

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Pathogenesis of Alzheimer's Disease

Begins in brain areas called the hippocampus and cortex.

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FOXO Transcription Factors

Key regulators for genes involved in catabolic processes.

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KCNJ11 Channel Mutations

Loss-of-function mutations affect insulin secretion, not storage in adipocytes.

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mTOR Signaling and Lifespan

The canonical mTOR signaling pathway preserves normal lifespan.

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Mitophagy and PARKIN

PARKIN is recruited by PINK1 for mitochondrial degradation.

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Alternative Splicing

Generates different mRNA transcripts from one primary transcript.

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Ubiquitinylation Role

Serves as a marker for protein misfolding, not transcription activation.

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Neurodegenerative diseases

Diseases characterized by the loss of specific brain neurons' activity.

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Alzheimer's disease pathogenesis

Begins in the brain area known as the hippocampus.

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Parkinson's disease symptoms

Includes motor neuron alterations, tremors, and loss of muscular strength.

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Senile plaques

Deposits of ẞ-amyloid found extracellularly in Alzheimer's disease.

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Ubiquitin-proteasome system

Cellular mechanism for protein degradation, requiring ubiquitin tagging.

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Caloric restriction (CR)

Suppression of insulin signaling linked to increased PARKIN and PINK1 expression.

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Mitochondrial E3 ubiquitin ligases

Proteins increased by FOXO3 that help degrade misfolded proteins.

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Study Notes

Nutrigenomics Overview

  • NGG is the science explaining the effect of genetic variation on dietary response.
  • Allelic mutations are often associated with measurable traits (phenotypes).
  • Novel genes are protein-coding DNA sequences with unknown functions.
  • Genomics refers to the amount, locations, structures, and functions of genes.

Disease Prediction

  • Basic research often uses knock-out reactions, not biomarkers for early disease prediction.
  • Biomarkers alone are insufficient to predict disease onset.

Diseases and Mutations

  • Alzheimer's Disease (AD):
    • Mutations in amyloid precursor genes affect splice and cleavage sites.
    • This leads to overexpression of the protein and cell death.
  • Parkinson's Disease (PD):
    • Mutations in alpha-synuclein lead to misfolding and aggregation.
    • This leads to Lewy bodies and cell death.
    • Other proteins (PARKIN, PINK1) influence mitochondrial health.

Nutrigenomics and Diseases

  • Nutrigenomics studies DNA variants influencing nutrition-related diseases, like Type II diabetes.
  • Type II diabetes is linked to insulin resistance and overweight.
  • Loss-of-function mutations in insulin signaling pathways can impair glucose uptake by cells, affecting insulin sensitivity.

Additional Information

  • mTOR activity can be modulated by caloric restriction.
  • Transcription factors like PPAR and SREBP influence lipogenesis downstream of mTOR.
  • Alleles are not always associated with phenotypes.
  • The mTOR/TOR complex is conserved across species.
  • AMP-activated protein kinase (AMPK) inhibits insulin signaling and promotes mTOR activity.
  • ATP activates AMPK, it's an energy sensor.
  • Branched-chain amino acids (BCAAs) may inhibit the mTOR complex.

Other Study Points

  • (m)TOR deficiency mimics caloric restriction in lab animals.
  • Allelic mutations are used to study gene functions.
  • T2DM pathogenesis involves systemic dysregulation of IRS1 and IRS2.
  • Many studies support non-linear signal transduction in insulin pathways.
  • Genetic screens identify genes and their functions.
  • Suppressor screens identify genes active in specific pathways.
  • Forward-genetic approaches use random mutagenesis.
  • Reverse-genetic approaches study already known genes.
  • Genetic complementation uses wild-type genes in mutant backgrounds.

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Description

Explore nutrigenomics, the study of genetic variations affecting dietary responses. Examine Alzheimer's and Parkinson's diseases, focusing on how mutations in genes like amyloid precursor and alpha-synuclein impact disease development and cell death.

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