Publications by authors named "Kenneth B Marguiles"
Anabolic metabolism of carbon in mammals is mediated via the one- and two-carbon carriers S-adenosyl methionine and acetyl-coenzyme A. In contrast, anabolic metabolism of three-carbon units via propionate has not been shown to extensively occur. Mammals are primarily thought to oxidize the three-carbon short chain fatty acid propionate by shunting propionyl-CoA to succinyl-CoA for entry into the TCA cycle.
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- The study aimed to explore the genetic factors contributing to dilated cardiomyopathy (DCM), a significant cause of heart failure.
- Researchers conducted a large genome-wide association study, identifying two new genetic loci associated with DCM and confirming previous ones, suggesting a strong link between certain genetic variations and increased risk of the disease.
- The findings highlight potential candidate genes, SLC6A6 and SMARCB1, which may be involved in the dysfunction of heart muscle, offering insights into new biological pathways related to heart failure.
Aims: Dilated cardiomyopathy (DCM) is an important cause of heart failure with a strong familial component. We performed an exome-wide array-based association study (EWAS) to assess the contribution of missense variants to sporadic DCM.
Methods And Results: 116,855 single nucleotide variants (SNVs) were analyzed in 2796 DCM patients and 6877 control subjects from 6 populations of European ancestry.