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Related Concept Videos

Reporter Genes02:11

Reporter Genes

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Reporter genes are a type of protein-coding gene that are often tagged to a gene of interest. Once inside a target cell, reporter genes usually produce visually identifiable characteristics like fluorescence and luminescence when expressed along with the gene of interest. Thus, reporter genes “report” the presence or absence of genes of interest in an organism, determine the gene expression pattern, or track the physical location of a DNA segment or protein in the cell.
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Gene expression with corresponding pathways analysis in Gaucher disease.

Łukasz Pawliński1, Anna Polus2, Małgorzata Kałużna3

  • 1Department of Metabolic Diseases and Diabetology, University Hospital, Krakow, Poland.

Experimental and Molecular Pathology
|September 5, 2021
PubMed
Summary

Gaucher disease (GD) gene expression analysis reveals altered inflammatory and cell death pathways. These changes may explain neurological symptoms like polyneuropathy and chronic pain in GD patients, impacting their quality of life.

Keywords:
ApoptosisAutophagyGaucher diseaseGene expressionInflammationMicroarray

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Area of Science:

  • Genetics and Molecular Biology
  • Biochemistry
  • Cell Biology

Background:

  • Gaucher disease (GD), caused by GBA gene mutations, presents diverse phenotypes beyond storage.
  • GD involves secondary alterations in cellular pathways and gene expression.
  • Understanding these molecular changes is crucial for managing GD complications.

Purpose of the Study:

  • To analyze the gene expression profile in adult patients with type 1 Gaucher disease.
  • To identify specific molecular pathways affected in GD patients compared to healthy controls.

Main Methods:

  • Observational, cross-sectional study of 20 type 1 GD patients and 10 healthy controls.
  • Microarray gene expression analysis followed by real-time PCR validation.
  • Pathway analysis focusing on chemokines, inflammation, endocytosis, autophagy, and apoptosis.

Main Results:

  • Up-regulation of genes in NFkB, inflammation (IL-1b), endocytosis, autophagy, apoptosis (CASP, BCL2), proteasome degradation, and SNARE complex pathways.
  • Down-regulation of genes related to chemokines and their receptors.
  • Inhibition of neuronal development genes (NTRK1) and stimulation of neurodegeneration/apoptosis genes (BCN1, IL1B).

Conclusions:

  • GD activates inflammatory processes, autophagy, and apoptosis pathways.
  • Identified novel pathways contributing to nervous system dysfunction in GD.
  • Findings suggest a molecular basis for polyneuropathy and chronic pain in GD, impacting patient quality of life.