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Related Concept Videos

Human Genetics01:28

Human Genetics

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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Coronary Artery Disease I: Introduction01:30

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Coronary Artery Disease (CAD): An Overview with Scientific InsightsCoronary Artery Disease (CAD), often referred to as C-A-D, is a prevalent blood vessel disorder classified under the broader category of atherosclerosis. Atherosclerosis is a pathological process characterized by the hardening and narrowing of arteries due to the accumulation of atherosclerotic plaques. These plaques are composed of cholesterol, fatty substances, inflammatory cells, calcium, and fibrin, reducing blood flow to...
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Factors Affecting Drug Response: Overview01:21

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When it comes to infants and young children, they are typically administered smaller doses of medication in comparison to adults. This is primarily because their organ functions still need to fully develop, meaning their bodies are not as efficient at metabolizing or eliminating drugs. Additionally, their blood-brain barrier is more permeable than in adults. As a result, high concentrations of drugs can easily penetrate the central nervous system (CNS), potentially leading to neurological...
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Protein-drug binding, a pivotal aspect of pharmacokinetics, is subject to considerable variability influenced by an array of patient-related factors. The intricate interplay of age, individual differences, and pathological conditions significantly impact the binding dynamics and subsequent pharmacological effects.
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Renal dysfunction significantly impairs the renal clearance of drugs, leading to potential complications in drug therapy. Renal failure, which can be caused by various factors, poses a significant challenge in the elimination of drugs from the body.
One condition associated with renal failure is uremia. Uremia is characterized by impaired glomerular filtration and fluid accumulation in the body. This condition hinders the renal clearance of drugs, resulting in drug accumulation and potential...
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Factors Affecting Drug Biotransformation: Biological01:19

Factors Affecting Drug Biotransformation: Biological

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Biological factors significantly impact drug metabolism, influencing drug clearance, efficacy, and potential toxicity.
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NAFLD: genetics and its clinical implications.

Dixa Sharma1, Palash Mandal1

  • 1P.D. Patel Institute of Applied Science, Charusat University of Science and Technology, Changa Dist, Anand, Gujarat, 388421, India.

Clinics and Research in Hepatology and Gastroenterology
|August 13, 2022
PubMed
Summary

Non-alcoholic fatty liver disease (NAFLD) is a growing global health issue. Genetics and environmental factors drive NAFLD progression, with gene variants offering new therapeutic targets for personalized medicine.

Keywords:
Non-alcoholic fatty liver diseasePNPLA3 genePersonalized therapeuticsPolymorphismRisk assessmentSteatohepatitis

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Area of Science:

  • Hepatology
  • Genetics
  • Personalized Medicine

Background:

  • Non-alcoholic fatty liver disease (NAFLD) is the most prevalent liver condition globally, with increasing incidence.
  • NAFLD progression varies significantly between patients, influenced by genetic and environmental factors.
  • NAFLD encompasses a spectrum from steatosis to cirrhosis and hepatocellular carcinoma (HCC).

Purpose of the Study:

  • To review the role of genetic factors in NAFLD development and progression.
  • To explore the translation of genetic discoveries into clinical applications and novel therapeutics.
  • To highlight the potential of personalized medicine approaches, including microbiota-based therapies.

Main Methods:

  • Review of genome-wide association studies (GWAS) identifying key gene variants (e.g., PNPLA3, TM6SF2).
  • Analysis of genetic associations with NAFLD biology, including lipid metabolism and mitochondrial function.
  • Exploration of polygenic risk scores (PRS) and gene regulatory networks (GRNs) for risk stratification.

Main Results:

  • GWAS have identified robust associations between specific gene variants and NAFLD.
  • Candidate genes are primarily involved in lipid droplet assembly, remodeling, and secretion.
  • Polygenic risk scores combined with metabolic factors can help identify patients at risk for severe liver disease.

Conclusions:

  • Genetic factors play a crucial role in NAFLD pathogenesis and inter-patient variability.
  • Translating genetic insights into polygenic risk scores and targeted therapies is a promising avenue.
  • Future research should focus on personalized NAFLD treatments, potentially involving microbiota modulation.