Pendred Syndrome (cont.)
What research is being conducted?
NIDCD has been working to understand
hearing loss caused by inherited syndromes such as Pendred syndrome as well as
from other causes. Researchers also are looking carefully at the characteristics
of the disorder and how the syndrome might cause problems in such different
parts of the body as the thyroid and inner ear.
Scientists continue to study the genetic basis of
Pendred syndrome. The protein that the SLC26A4 gene encodes, called pendrin, is found in the inner
ear, kidney, and thyroid gland. Researchers have identified more than 90
deafness-causing mutations or alterations of this gene.
Scientists have altered the gene in mice so that the
mice have an abnormal SLC26A4 gene. The study of these mice is providing
information on how the abnormal gene affects the form and function of different
parts of the body. For example, by studying the inner ears of mice with SLC26A4
mutations, scientists now realize that the enlarged vestibular aqueduct
associated with Pendred syndrome is not caused by a sudden stop in the normal
development of the ear. Studies such as this are important because they help
scientists rule out some
causes of a disorder while helping to identify areas needing more research.
Eventually, researchers are hopeful that these studies will lead to therapies
that can target the basic causes of the condition.
SOURCE: National Institute on Deafness and
Other Communication Disorders, National Institutes of Health
Last Editorial Review: 10/29/2008
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