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Scientists identify a probable contributor to weakness of the aorta in people with genetic disorder

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81% Informative

Johns Hopkins Medicine scientists identify a probable contributor to weakness of the aorta in people with genetic disorder.

Loeys-Dietz syndrome affects the craniofacial, skeletal, cutaneous, gastrointestinal and cardiovascular systems.

Aneurysms are bulging enlargements of an artery that predispose it to life-threatening tears (dissections) or rupture.

Aortic cells expressing high levels of Gata4 were present in higher numbers in the aortic root of mice and humans with Loeys-Dietz syndrome.

Smooth muscle cells with the Tgfbr1 mutation seem to be unable to properly degrade excess protein, resulting in its accumulation.

The scientists hope to learn why the mutation that causes the mutation leads to an accumulation of the protein.

The research was funded by the National Institutes of Health .

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English

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long-living

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