Genetic changes tied to rare brain bleeds in babies

Genetic changes tied to rare brain bleeds in babies
(HealthDay)—Researchers say they've identified genetic mutations linked with a blood vessel defect that can lead to deadly brain bleeds in babies.

A rare hereditary condition, called vein of Galen malformation, causes high-pressured blood to be pumped from arteries into veins. The veins aren't meant to handle such pressure and can rupture, spilling blood into the brain.

"The effect is like trying to connect your backyard garden hose to a fire hydrant—the veins simply cannot withstand such high pressures from pumping arteries," explained study corresponding author Kristopher Kahle, of Yale University. He's an assistant professor of neurosurgery, pediatrics, and cellular and molecular physiology.

For the study, Kahle's team conducted genetic analyses of 55 children with vein of Galen malformation and their parents. The investigators identified a number of associated with the condition.

One mutation is in a gene called EPHB4, which plays a major role in the development of the vascular system, the study authors reported.

The researchers also discovered that many parents who carry of this gene had caused by vascular irregularities. This information might help doctors diagnose vein of Galen malformation before a baby suffers a brain bleed, Kahle and his colleagues said in a Yale news release.

Currently, the best treatment is a minimally invasive catheter procedure, but only a few facilities in the United States can perform the operation, the researchers said.

However, there are drugs to treat other conditions caused by genetic disruptions identified in the study. Those drugs might prove helpful in treating children with vein of Galen malformation, Kahle said.

The findings were published Dec. 18 in the journal Neuron.


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More information: The Weill Cornell Brain and Spine Center has more on vein of Galen malformation.
Journal information: Neuron

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Dec 18, 2018
SO MANY DISEASES. We have a Long list of items to tackle. Humans have so many tasks left out to acquire the remaining skills. To acquire Earthworm-like Immunity. To gain the largest animal size, beating Elephants and Whales (Not of the size of Ants, which are so vulnerable) and meanwhile to explore various Asteroids for scarce resources. To acquire photosynthesizing ability like plants....Some animals (For Ex: Sea Slug, Elysia chlorotica) have already done it. We have planes to fly in air and boats to go over water...but not the agility of monkeys or cheetah, cannot fly like eagles or swim like fish. We cannot see in Dark like Owl nor have olfactory talent of dogs !

Dec 18, 2018
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Dec 18, 2018
SO MANY DISEASES. We have a Long list of items to tackle. Humans have so many tasks left out to acquire the remaining skills. To acquire Earthworm-like Immunity. To acquire photosynthesizing ability like plants....Some animals (For Ex: Sea Slug, Elysia chlorotica) have already done it.

Carnivorous Plants
https://www.youtu...1bM2vVFU

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