Precision Medicine in Autism Spectrum
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Questions and Answers

What drives the metabolic and epigenetic regulation of fetal programming?

  • Maternal immune activation
  • Mitochondrial dysfunction
  • Placenta (correct)
  • Oxidative stress
  • Which time window is crucial for brain wiring according to the text?

  • First two years of life (correct)
  • Adolescence
  • Early adulthood
  • Elderly age
  • Which interconnected molecular pathways are involved in the 'bad trio' mentioned in the text?

  • Mitochondrial dysfunction, oxidative stress, dysbiosis (correct)
  • Genomic background, maternal immune activation, dysbiosis
  • Placenta, rare mutations, synaptic homeostasis
  • Oxidative stress, genomic background, neurodevelopment
  • What may act as a 'buffer' for the impact of rare mutations on the phenotypic outcome?

    <p>Genomic background</p> Signup and view all the answers

    In which environment is the epigenome programmed in an adaptive sense, influencing lifelong disease risk?

    <p>Intrauterine and cellular microenvironment</p> Signup and view all the answers

    What influences the lifelong risk for diseases according to the text?

    <p>Genomic background</p> Signup and view all the answers

    What is the main goal of a precision medicine approach in treating individuals in the autism spectrum?

    <p>Identify targeted treatments based on underlying pathophysiology</p> Signup and view all the answers

    How do stratification biomarkers function in selecting patients for treatments?

    <p>Divide patients into subgroups with shared biological characteristics</p> Signup and view all the answers

    Why are stratification biomarkers considered clinically relevant for Autism Spectrum Disorder (ASD)?

    <p>They have prognostic and predictive value</p> Signup and view all the answers

    In what stage is the research on stratification biomarkers for ASD?

    <p>Still in the early stages</p> Signup and view all the answers

    What role does Mitochondrial Dysfunction (MD) play in the determinants of Autism Spectrum Disorder?

    <p>Interplay with other determinants like Maternal Immune Activation</p> Signup and view all the answers

    How does matrilinear transfer of mitochondria contribute to genetic information in newborns?

    <p>Adds to the genetic information stored in maternal and paternal germinal cells</p> Signup and view all the answers

    What is the primary role of tau protein in mature neurons?

    <p>Tau is involved in the regulation of microtubule dynamics.</p> Signup and view all the answers

    What is the primary effect of tau hyperphosphorylation in Alzheimer's disease patients?

    <p>Tau hyperphosphorylation causes the formation of neurofibrillary tangles and neuronal death.</p> Signup and view all the answers

    What is the relationship between tau concentration and autism spectrum disorder (ASD)?

    <p>Tau concentration decreases in the serum of ASD males.</p> Signup and view all the answers

    What is the primary limitation of using individual proteins as universal biomarkers for ASD?

    <p>It may be impractical to assume that every individual protein could be used as a universal biomarker for ASD.</p> Signup and view all the answers

    What is the key metabolic abnormality observed in ASD patients?

    <p>Imbalance in the glutamatergic and GABAergic systems.</p> Signup and view all the answers

    What is the relationship between short-chain fatty acids (SCFA) and ASD?

    <p>SCFA production is decreased in the intestinal microbiota of ASD patients.</p> Signup and view all the answers

    What is the role of SCFA in the brain?

    <p>SCFA act as histone deacetylase inhibitors, which is important for glial cell function</p> Signup and view all the answers

    How does the gut microbiota impact neurological processes?

    <p>The gut microbiota impacts blood-brain barrier formation, myelination, and synthesis of neurotransmitters including GABA, dopamine, and others</p> Signup and view all the answers

    What is the connection between the gut microbiome and autism spectrum disorder (ASD)?

    <p>The link between the gut microbiome and ASD was made because GI disturbances have been frequently detected in ASD</p> Signup and view all the answers

    What is the relationship between the autonomic nervous system and the gut?

    <p>The autonomic nervous system that controls gut function is called the enteric nervous system (ENS) and this system shares many structural and functional characteristics with the central nervous system (CNS)</p> Signup and view all the answers

    What was observed in germ-free mice that received microbiota transfer from ASD donors?

    <p>Germ-free mice that received microbiota transfer from ASD donors showed autistic-like behaviors compared to mice that received a transfer from typically-developed donors</p> Signup and view all the answers

    What is the evidence linking ASD core symptoms to GI disturbances?

    <p>The evidence that links ASD core symptoms to GI disturbances is strong and is currently being explored in clinical trials</p> Signup and view all the answers

    What does the text suggest about individuals with a small number of common risk variants for ASD?

    <p>They may require a higher burden of deleterious mutations to develop ASD.</p> Signup and view all the answers

    Which of the following environmental factors is mentioned as potentially influencing the risk for ASD during the embryonic stage?

    <p>Maternal infections and prenatal exposure to toxins</p> Signup and view all the answers

    What percentage of the observed variance in ASD is attributed to environmental influences?

    <p>5-6%</p> Signup and view all the answers

    What does the text suggest about the timing of different factors impacting neuronal development?

    <p>The timing of both genetic and environmental factors plays a crucial role in determining developmental outcome.</p> Signup and view all the answers

    What determines brain development initially?

    <p>Distinct temporal and spatial stages of gene expression and intrinsic neuronal activity</p> Signup and view all the answers

    What does the text suggest about the role of animal studies in understanding the impact of genetic/environmental insults on development?

    <p>Animal studies can trace the effects of these insults across cellular, molecular, brain systems, and behavioral levels.</p> Signup and view all the answers

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