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Published on: October 4, 2017
Superoxide dismutase 3, extracellular (SOD3) variants and lung function.
Koustav Ganguly1, Martin Depner, Cheryl Fattman
1Institute of Lung Biology and Disease, Helmholtz Zentrum München, German Research Center for Environmental Health, Munich, Germany.
Physiological Genomics
|March 26, 2009
Summary
Genetic variations in extracellular superoxide dismutase 3 (SOD3) impact lung function development. SOD3 gene variants are linked to reduced lung function in children and may influence chronic obstructive pulmonary disease (COPD) risk.
Area of Science:
- Pulmonary Medicine
- Genetics
- Biochemistry
Background:
- Polymorphisms in extracellular superoxide dismutase 3 (SOD3) are linked to reduced lung function and chronic obstructive pulmonary disease (COPD) susceptibility.
- Previous research identified SOD3 as a factor in altered ventilation efficiency in mice.
- SOD3's role in protecting lung extracellular matrix suggests potential influence on postnatal lung development.
Purpose of the Study:
- To investigate the role of SOD3 variants in postnatal lung function development.
- To examine SOD3 transcript and protein localization in mouse strains with differing ventilation efficiency.
- To assess the association of SOD3 single nucleotide polymorphisms (SNPs) with lung function in children.
Main Methods:
- Examined SOD3 transcript and protein localization in high and low ventilation efficiency mouse strains during postnatal development.
- Analyzed Sod3 promoter SNPs and their effect on transcription factor binding sites in mice.
- Assessed the association of two common SOD3 SNPs with lung function parameters (FEV1, MEF25) in children (n=1,555).
- Performed in vitro analysis of SOD3 promoter variants' binding capacity.
Main Results:
- JF1/Msf mice (low ventilation efficiency) exhibited Sod3 promoter SNPs and decreased lung SOD3 mRNA during postnatal development.
- Adult JF1/Msf mice showed reduced total lung SOD3 activity, transcript, and protein.
- In children, specific SOD3 promoter and exon 2 SNPs were associated with decreased FEV1 and MEF25, respectively.
- In vitro, the SOD3 promoter C variant demonstrated stronger binding competition than the T variant.
Conclusions:
- SOD3 variants, particularly promoter SNPs, may influence lung function development in children.
- Findings support a role for SOD3 variants in determining lung function and potentially influencing COPD risk.
- SOD3's protective function in the lung extracellular matrix is potentially modulated by genetic variations affecting its expression and activity.
