Related Experiment Video

Updated: Aug 29, 2026

Gene Expression Profiling of Infecting Microbes Using a Digital Bar-coding Platform
09:13

Gene Expression Profiling of Infecting Microbes Using a Digital Bar-coding Platform

Published on: January 13, 2016

Gene expression profiling provides insight into the pathophysiology of chronic granulomatous disease

Scott D Kobayashi1, Jovanka M Voyich, Kevin R Braughton

  • 1Laboratory of Human Bacterial Pathogenesis, Rocky Mountain Laboratories, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 903 South 4th Street, Hamilton, MT 59840, USA

Journal of Immunology (Baltimore, Md. : 1950)
|December 23, 2003
PubMed

Insights

Reactive oxygen species (ROS) are crucial for neutrophil function. In X-linked chronic granulomatous disease (XCGD), lack of ROS impairs microbial killing and leads to granuloma formation due to increased inflammation and defective neutrophil apoptosis.

Area of Science:

  • Immunology
  • Molecular Biology
  • Genetics

Background:

  • Human polymorphonuclear leukocytes (PMNs) use reactive oxygen species (ROS) and granule components to kill microbes.
  • X-linked chronic granulomatous disease (XCGD) is characterized by a lack of ROS production, leading to increased infection susceptibility.
  • The mechanisms behind granuloma formation in XCGD patients remain unclear.

Purpose of the Study:

  • To investigate the molecular mechanisms underlying XCGD pathophysiology, focusing on granuloma formation.
  • To compare global gene expression in PMNs from XCGD patients and healthy controls.
  • To identify genes regulated by ROS during phagocytosis in neutrophils.

Main Methods:

  • Global gene expression profiling of PMNs from XCGD patients and healthy individuals.
  • Comparative transcript analysis before and after phagocytosis in the presence and absence of ROS.
  • Analysis of neutrophil apoptosis and Bcl2-associated X protein synthesis.

Main Results:

  • Constitutive upregulation of inflammation and host defense genes (e.g., CD11c, TLR5, IL-8) in unstimulated XCGD PMNs.
  • Identification of 206 genes with altered expression dependent on ROS presence during phagocytosis.
  • Defective neutrophil apoptosis in XCGD patients, linked to altered Bcl2-associated X protein synthesis.

Conclusions:

  • Granuloma formation in XCGD is likely driven by increased pro-inflammatory activity and impaired neutrophil apoptosis.
  • ROS play a significant role in the resolution of inflammatory responses by modulating PMN gene transcription.
  • Understanding these molecular processes is key to addressing XCGD pathophysiology.

More Related Videos

A Novel Microdissection Approach to Recovering Mycobacterium tuberculosis Specific Transcripts from Formalin Fixed Paraffin Embedded Lung Granulomas07:42

A Novel Microdissection Approach to Recovering Mycobacterium tuberculosis Specific Transcripts from Formalin Fixed Paraffin Embedded Lung Granulomas

Published on: June 5, 2014

Related Concept Videos

Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Ribosome Profiling02:24

Ribosome Profiling

Ribosome profiling or ribo-sequencing is a deep sequencing technique that produces a snapshot of active translation in a cell. It selectively sequences the mRNAs protected by ribosomes to get an insight into a cell’s translation landscape at any given point in time.
Applications of ribosome profiling
Ribosome profiling has many applications, including in vivo monitoring of translation inside a particular organ or tissue type and quantifying new protein synthesis levels.
The technique helps...
Reporter Genes02:11

Reporter Genes

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.
Commonly used reporter...