Researchers uncover why a gene mutant causes young children to have strokes


By Jeannette Sanchez, Media Relations
October 3, 2023

Dianna Milewicz, MD, PhD, and her team identified that a change in the gene called ACTA2 caused children to have moyamoya disease and strokes starting shortly after birth.

Dianna Milewicz, MD, PhD, and her team identified that a change in the gene called ACTA2 caused children to have moyamoya disease and strokes starting shortly after birth. (Photo by UTHealth Houston)

A discovery of a mutation in the gene ACTA2 has given researchers, led by Dianna Milewicz, MD, PhD, with UTHealth Houston, insight into understanding the cause of a rare and progressive problem with arteries in the brain and a cause of strokes in young children, called moyamoya disease.

The findings were published today in Nature Cardiovascular Research.

Moyamoya disease is a condition where the arteries going through the neck and into the brain become blocked right when the arteries enter the brain. Moyamoya disease can lead to strokes and seizures. Children only a few months old can suffer a stroke due to the disease. Current treatments are limited to medications to reduce the risk of stroke and surgery to open or bypass blocked arteries.

“This disease is one of the major causes of stroke in children and nobody knows why this happens or why these arteries get clogged,” said Milewicz, senior author of the study and professor and director of the Division of Medical Genetics at McGovern Medical School at UTHealth Houston. “These children don’t smoke; they don’t have hypertension and they don’t have any of the other usual risk factors that cause strokes in adults.”

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