A Genetic Mutation that Can Cause Heart Disease has Been Identified
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A group of researchers from UTHealth Houston has pinpointed a mutation in the ACTA2 gene, which has the ability to trigger the accumulation of calcium in artery walls. This process can lead to the early onset of coronary artery disease (CAD) in individuals as young as 30 years old.
Dr. Dianna Milewicz, the study’s senior author, a professor, and the director of the Division of Medical Genetics at McGovern Medical School at UTHealth Houston, expressed that the ACTA2 gene is responsible for encoding a specific protein that is not associated with cholesterol.
The revelation that individuals carrying the gene mutation displayed heightened levels of atherosclerosis at a young age, despite the absence of conventional risk factors, was an unexpected finding.
Unraveling the Underlying Mechanisms of ACTA2 Mutations in Early Onset CAD
While Dr. Dianna Milewicz has previously established a connection between various genetic mutations in ACTA2 and the early onset of coronary artery disease (CAD), this recent research sheds light on the underlying mechanisms involved.
Atherosclerosis is a condition in which cholesterol or other fats gradually accumulate on the walls of arteries. Typically, it does not exhibit symptoms until a heart attack or stroke occurs. However, in the presence of the ACTA2 mutation, which primarily affects the smooth muscle cells that line the arteries, an incorrectly folded protein initiates cellular stress. As a result, this stress triggers the production of cholesterol and the subsequent formation of plaque on the walls of the arteries.
According to Dr. Milewicz, the mutated protein derived from the ACTA2 mutation instigated stress in the cells of the artery walls during the study. However, it is important to note that there are numerous additional factors capable of inducing cellular stress. The researchers are presently exploring other risk factors associated with coronary artery disease (CAD), including hypertension, which can similarly subject the cells to stress and activate this novel pathway that contributes to the development of CAD.
Implications for Statin Therapy in ACTA2 Mutations
Dr. Milewicz underscored the remarkable nature of this finding, highlighting its novelty by stating, “This discovery unveils an entirely new pathway to atherosclerosis. It provides an explanation for why statins have been effective in safeguarding individuals against heart attacks, even in cases where blood cholesterol levels are within the normal range. For individuals with ACTA2 mutations, statins work by inhibiting the production of cholesterol by the smooth muscle cells that are under stress.”
The sc conducted experiments in a mouse model where they induced atherosclerosis. Interestingly, they observed that the mice with the engineered ACTA2 mutation exhibited significantly higher levels of atherosclerosis compared to the normal mice in the trial. This finding closely resembles the pathway to atherosclerosis observed in humans.
Furthermore, the researchers discovered that the condition could be reversed by treating the mice with pravastatin, a type of statin medication commonly used to lower blood cholesterol levels.
A Promising Diagnostic Tool for Early Detection of Atherosclerosis in ACTA2 Mutations
Dr. Dianna Milewicz suggested that cardiac calcium imaging could serve as a valuable diagnostic tool for early detection of atherosclerosis development in individuals with ACTA2 mutations. This information could help physicians determine the appropriate age to initiate statin treatment for these patients.
Despite a decrease in overall heart attacks among Americans due to improved medications and healthier lifestyle choices, coronary artery disease (CAD) is becoming more prevalent among younger adults. Disturbingly, statistics from 2019 indicate that one in five heart attacks occurred in individuals aged 40 or younger.
Read the original article on: New Atlas
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