Researchers uncover how a genetic mutation can cause individuals with normal cholesterol levels to develop coronary artery disease at a young age

July 24, 2023

A novel molecular pathway to explain how a mutation in the gene ACTA2 can cause individuals in their 30s – with normal cholesterol levels and no other risk factors — to develop coronary artery disease has been identified, according to researchers with UTHealth Houston.

The study was published in the European Heart Journal.

“The gene ACTA2 codes a specific protein that has nothing to do with cholesterol,” said Dianna Milewicz, MD, PhD, senior author of the study and professor and director of the Division of Medical Genetics at McGovern Medical School at UTHealth Houston. “It was a surprise to find that people with the gene mutation had too much atherosclerosis at a young age and with no risk factors.”

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