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Functional UQCRC1 polymorphisms affect promoter activity and body lipid accumulation
Tanja Kunej1, Zeping Wang, Jennifer J Michal
1Department of Animal Sciences, East Wilson Road, Washington State University, Pullman, WA 99164-6351, USA.
Obesity (Silver Spring, Md.)
|January 17, 2008
Summary
Genetic variations in the ubiquinol-cytochrome c reductase core protein I gene are linked to subcutaneous fat depth and skeletal muscle lipid accumulation in cattle. This suggests a potential role in obesity development.
Area of Science:
- Genetics
- Metabolic Diseases
- Mitochondrial Biology
Background:
- Obesity and type 2 diabetes are major global health issues.
- Insulin resistance, linked to these conditions, involves skeletal muscle lipid accumulation and mitochondrial dysfunction.
- Mitochondrial biogenesis is regulated by numerous nuclear-encoded proteins.
Purpose of the Study:
- To investigate the association between the ubiquinol-cytochrome c reductase core protein I gene and traits related to obesity.
- To explore the functional impact of gene promoter polymorphisms on gene activity.
Main Methods:
- Identified and genotyped four promoter polymorphisms in the ubiquinol-cytochrome c reductase core protein I gene in Wagyu x Limousin F2 cattle.
- Performed statistical association analysis between polymorphisms and subcutaneous fat depth (SFD) and skeletal muscle lipid accumulation (SMLA).
- Assessed promoter activity using cell line assays.
Main Results:
- Two linked polymorphisms (g.13487C>T and g.13709G>C) were significantly associated with SFD (p < 0.01) and SMLA (p < 0.0001).
- Specific haplotypes (TTCC vs. CCGG) showed significant differences in SFD and SMLA.
- The TTCC haplotype exhibited higher promoter activity (43-49%) compared to the CCGG haplotype in cell lines (p < 0.05).
Conclusions:
- Genetic variations in the ubiquinol-cytochrome c reductase core protein I gene are associated with fat deposition and lipid accumulation in skeletal muscle.
- These findings suggest that ubiquinol-cytochrome c reductase core protein I may play a role in mitochondrial function and the development of obesity and related metabolic conditions.
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