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Related Concept Videos

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
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Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life

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Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.

Luiza L P Ramos1,2, Jevin M Parmar3, Robin Wijngaard4,5,6

  • 1Molecular Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.

Annals of Neurology
|June 9, 2026
PubMed
Summary
This summary is machine-generated.

Novel heterozygous variants in POLR3A cause a new form of peripheral neuropathy. This RNA polymerase III (Pol III) related disorder expands the known disease spectrum and highlights tRNA metabolism

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Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Biallelic variants in RNA polymerase III (Pol III) genes cause neurological disorders.
  • Monoallelic variants in POLR3B are linked to neurodevelopmental issues, epilepsy, and neuropathy.
  • The role of monoallelic POLR3A variants in neurological disease remained largely unexplored.

Purpose of the Study:

  • To investigate a novel Pol III-related disorder caused by monoallelic variants in POLR3A.
  • To characterize the clinical and molecular phenotype associated with these variants.
  • To expand the understanding of Pol III-related diseases and associated genes.

Main Methods:

  • Clinical and genetic analysis of 11 patients from 8 families with heterozygous POLR3A variants.
  • In silico biophysical characterization of mutant proteins.
  • In vitro studies including immunoblotting, interactomics, and transcriptomics in patient-derived cells.

Main Results:

  • Identified de novo or autosomal-dominant heterozygous missense variants in POLR3A.
  • Patients presented with early-onset, progressive sensorimotor peripheral polyneuropathy.
  • No white matter abnormalities were observed on brain MRI; Pol III dysfunction involved tRNA downregulation.

Conclusions:

  • Established POLR3A as a novel gene associated with peripheral neuropathy.
  • Expanded the spectrum of Pol III-related disorders beyond biallelic phenotypes.
  • Highlighted the role of Pol III dysfunction and tRNA metabolism in peripheral neurodegeneration.