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Clemson research finds chickens offer clues to human birth defects
Date:11/25/2013

>The researchers identified another mutation in the Araucana containing genes known to cause DiGeorge syndrome in humans, a disorder that results in the poor development of several body systems, including the facial bones, cleft palates, heart defects, poor immune system function, complications related to low levels of calcium in the blood and behavioral disorders.

The mutation in the Araucana lead to the formation of the ear tufts and abnormal middle ear blockages, causing conductive deafness. While the Araucana ear tufts look appealing, they hide the hearing defect that affects these birds.

The middle ear, which should normally have an air-filled cavity, instead is full of cellular tissue that causes conductive deafness because the middle ear bones cannot move and sound is not transmitted from the outside world to the inner ear.

"We know from this research that the genome region involved in the Araucana is the same as that causing DiGeorge syndrome in humans," said Chapman. "In the Araucana, the excess middle ear tissue is a specific defect that can act as a model for middle ear infections in children who also seem to have excess cells in the air-filled cavity of the middle ear."

Investigating the Araucana mutation is helping researchers understand how the embryo develops normally and offers reasons why the development process goes wrong and what potentially can be done to avoid or treat such conditions.

The long-term goal of this research is to offer options and therapies to families and health-care professionals faced with deafness, infections and birth defects.


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Contact: Susan Chapman
schapm2@clemson.edu
864-656-5432
Clemson University
Source:Eurekalert  

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