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Inborn Errors of Metabolism01:20

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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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Factors Affecting Drug Biotransformation: Biological01:19

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Biological factors significantly impact drug metabolism, influencing drug clearance, efficacy, and potential toxicity.
Species differences: Variations in enzyme systems across species can cause disparities in drug metabolism. For instance, humans may metabolize certain drugs faster than rodents, altering therapeutic effects.
Strain differences: Genetic variations within a species can result in differing enzyme activity, impacting drug response and toxicity. For example, some mouse strains may...
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Carbohydrate metabolism is a fundamental biochemical process that ensures a constant supply of energy to living cells. The most important carbohydrate is glucose, which can be broken down via glycolysis to enter into the Krebs cycle and eventually lead to the production of ATP through oxidative phosphorylation.
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Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
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Drug Metabolism: Phase II Reactions01:14

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Phase II reactions are essential for the detoxification and elimination of drugs from the body. These reactions involve the conjugation of parent drugs or their phase I metabolites with endogenous molecules, resulting in more hydrophilic drug conjugates. The primary conjugation reactions in this phase are sulfation and glucuronidation. Both sulfation and glucuronidation typically produce biologically inactive metabolites. However, in some cases involving prodrugs, active metabolites may be...
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Altered Hepatic Metabolism in Down Syndrome.

Lauren N Dunn1, Brian F Niemeyer1, Neetha P Eduthan1

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Down syndrome (Trisomy 21) is linked to significant metabolic alterations, particularly in bile acid levels and liver function. Dietary fat modulation shows potential for impacting these changes in individuals with Down syndrome.

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Area of Science:

  • Genetics and Genomics
  • Metabolomics
  • Human Health

Background:

  • Down syndrome (DS), caused by Trisomy 21 (T21), is the most common chromosomal abnormality.
  • Individuals with DS have increased risks for congenital heart defects, autoimmunity, and Alzheimer's disease.
  • DS affects multiple organ systems, suggesting widespread physiological impacts.

Purpose of the Study:

  • To investigate metabolic changes in individuals with Down syndrome using multi-omic analysis.
  • To explore the impact of Trisomy 21 on bile acid metabolism and liver function.
  • To examine the effects of dietary fat modulation on hepatic metabolism in a Down syndrome mouse model.

Main Methods:

  • Multi-omic analysis of plasma from over 400 individuals with Down syndrome.
  • Utilized a Down syndrome mouse model (Dp16) for mechanistic studies.
  • Employed bulk RNA-sequencing and single-cell transcriptomics of liver tissue.
  • Investigated the effects of dietary fat modulation on gene expression and metabolic profiles.

Main Results:

  • Broad metabolic changes observed in the Down syndrome population, including elevated bile acid levels.
  • Identified protein signatures indicative of liver dysfunction in individuals with DS.
  • Confirmed conserved perturbations in bile acid metabolism and liver pathology in the DS mouse model.
  • Revealed widespread impacts of Trisomy 21 on hepatic metabolism and inflammation, with specific cell types identified.

Conclusions:

  • Down syndrome is associated with significantly altered hepatic metabolism, characterized by dysregulated bile acid pathways.
  • Liver pathology and metabolic disturbances in Down syndrome are conserved in mouse models.
  • Dietary fat intake can influence gene expression, bile acid profiles, and liver health in the context of Down syndrome.
  • These findings suggest that diet represents a potential therapeutic avenue for managing metabolic complications in Down syndrome.