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Updated: Dec 22, 2025

Measurement of Heme Synthesis Levels in Mammalian Cells
Published on: July 9, 2015
Heme metabolism genes Downregulated in COPD Cachexia.
Ava C Wilson1,2, Preeti L Kumar2, Sool Lee3
1Department of Epidemiology, School of Public Health, University of Alabama at Birmingham, Birmingham, AL, USA.
Cachexia in Chronic Obstructive Pulmonary Disease (COPD) is linked to gene expression changes. Researchers found specific genes involved in heme metabolism were downregulated in COPD cachexia patients.
Area of Science:
- Pulmonary Medicine
- Genetics
- Molecular Biology
Background:
- Cachexia significantly increases mortality and reduces quality of life in patients with Chronic Obstructive Pulmonary Disease (COPD).
- Gene expression alterations are suspected to play a role in the development of COPD cachexia.
- Identifying these genetic signatures can provide insights into disease mechanisms.
Purpose of the Study:
- To identify differential gene expression signatures associated with cachexia in individuals with COPD.
- To compare gene expression patterns between cachectic and non-cachectic COPD patients.
- To explore the role of specific gene pathways in COPD cachexia.
Main Methods:
- Whole-blood gene expression data was analyzed from two cohorts: COPDGene (N=400) and ECLIPSE (N=114).
- Cachexia was defined using criteria including weight loss, low body mass index (BMI), decreased muscle strength, anemia, and low fat-free mass index (FFMI).
- Differential gene expression was assessed between cachectic and non-cachectic subjects, with adjustments for covariates, followed by gene set enrichment analysis.
Main Results:
- The prevalence of COPD cachexia was 13.7% in the COPDGene cohort and 7.9% in the ECLIPSE cohort.
- Fourteen genes were found to be differentially downregulated in cachectic COPD patients compared to non-cachectic patients across both cohorts.
- These downregulated genes were consistently identified in both the discovery (COPDGene) and replication (ECLIPSE) cohorts.
Conclusions:
- Several replicated genes involved in heme metabolism were downregulated in individuals with COPD cachexia.
- Impaired heme biosynthesis is suggested as a potential contributor to cachexia development.
- This impairment may lead to increased free-iron buildup and oxidative tissue damage, exacerbating cachexia in COPD.
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