Related Experiment Video
Updated: Jul 16, 2026
13:32
Laser Capture Microdissection of Enriched Populations of Neurons or Single Neurons for Gene Expression Analysis After Traumatic Brain Injury
Published on: April 10, 2013
21.3K
Whole-Blood Gene Expression Profile After Hypoxic-Ischemic Encephalopathy
Paolo Montaldo1,2, Constance Burgod1, Jethro A Herberg3
1Centre for Perinatal Neuroscience, Department of Brain Sciences, Imperial College London, London, United Kingdom.
JAMA Network Open
|February 2, 2024
Summary
Hypoxic-ischemic encephalopathy (HIE) treatment differs between high-income countries and South Asia due to distinct underlying disease mechanisms. Gene expression profiles reveal acute hypoxia in HIC neonates and nonacute hypoxia in South Asian neonates, impacting hypothermia effectiveness.
Area of Science:
- Neonatal Medicine
- Genomics
- Global Health Disparities
Background:
- Induced hypothermia is standard for neonatal hypoxic-ischemic encephalopathy (HIE) in high-income countries (HICs).
- This treatment is less effective in South Asia, a region with the highest HIE burden.
- Differences in HIE pathogenesis between HICs and South Asia remain unclear.
Purpose of the Study:
- To investigate genome-wide expression profiles in neonates with HIE from an HIC versus South Asia.
- To identify potential molecular mechanisms underlying differential treatment responses.
Main Methods:
- A case-control study comparing neonates with HIE from Italy (HIC) and India, Sri Lanka, and Bangladesh (South Asia).
- Whole-blood RNA sequencing was performed on samples collected at birth and up to 72 hours post-birth.
- Analysis focused on genome expression profiles associated with adverse outcomes and differences between HIE neonates and healthy controls.
Main Results:
- Significant differences in gene expression profiles were observed between HIC and South Asia HIE cohorts.
- 1793 genes associated with adverse outcomes in the HIC cohort vs. 99 in the South Asia cohort; only 11 common genes with opposite expression changes.
- Key pathways differed: eukaryotic translation initiation factor 2 signaling (downregulated) in HIC, and aldosterone signaling in epithelial cells in South Asia.
Conclusions:
- HIE pathogenesis differs significantly between HIC and South Asia neonates.
- Acute hypoxia is implicated in HIC HIE, while nonacute hypoxia characterizes South Asian HIE.
- These distinct molecular mechanisms may explain the variable effectiveness of induced hypothermia.
