A recent study published in the journal PLoS Genetics may provide new insight into the underlying genetic and biochemical influences in the development of stroke and cardiovascular disease as well as lead to the development of new treatment strategies. Michele Williams, Phd, and Brad Worrall, MD, of the University of Virginia, along with their research team, pinpointed a genetic variant tied to an increased risk of stroke and have discovered new details about an important metabolic pathway that plays a significant role in several common diseases.

According to a news release from the National Institutes of Health (NIH), the group that funded the study, the researchers focused on one particular biochemical pathway called the folate one-carbon metabolism (FOCM) pathway. The researchers conducted genome-wide association studies of participants from two long-term projects: the Vitamin Intervention for Stroke Prevention (VISP) and the Framingham Heart Study (FHS). The methionine metabolism was also measured, and a total of 2,100 VISP participants and 2,710 FHS subjects were studied.

The researchers identified variants in five genes in the FOCM pathway that were associated with differences in a person’s ability to convert methionine to homocysteine, as indicated on the NIH news release. The group determined that the five genes accounted for 6% of the difference in individuals’ ability to process methionine into homocysteine among those in the VISP trial. The genes also accounted for 13% of the difference in those participants in the FHS. Among the five genes, the ALDH1L1 gene was strongly associated with stroke.

The NIH news release notes that the researchers plan to study the other four genes in the pathway to try to better understand their potential roles in stroke and cardiovascular disease risk. Stephen R. Williams, PhD, states, “Our findings have the potential to identify new targets in the prevention and treatment of stroke, cardiovascular disease and many other common diseases.”

[Source: National Institutes of Health]