A Yale-led consortium of researchers have identified genetic biomarkers for a significant percentage of a rare but often deadly malformation of blood vessels in the brains of infants, they report Dec. 18 in the journal Neuron.
The condition, called Vein of Galen malformation (VOGM), causes arteries that pump high-pressure blood to bypass the normal capillary system and instead funnel directly into veins, exposing them to abnormally high pressures. This can cause vessel rupture and brain hemorrhage in newborns.
“The effect is like trying to connect a your backyard garden hose to a fire hydrant — the veins simply cannot withstand such high pressures from pumping arteries,” said corresponding author Kristopher Kahle, assistant professor of neurosurgery, pediatrics, and cellular & molecular physiology.
The research team analyzed all of the genes of 55 children with VOGM and their parents. One of the mutations associated with increased risk that they identified is crucial to the development of the vascular system. Intriguingly, said the researchers, parents who carry mutations of this gene (EPHB4) also often had skin lesions as result of vascular irregularities.
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