Surprising AHDS Development Could Lead to Treatment

Allan-Herndon-Dudley Syndrome can be incredibly tricky to treat, due to the blood brain barrier. New research may change the equation and eventually lead to treatment. Read the original story at Science Daily.

Normally, the blood-brain barrier is an amazing line of defense. It keeps harmful substances that may enter the blood stream away from the brain where they could do more damage. In certain situations, however, the blood-brain barrier can become a liability. It can unintentionally exclude therapeutic drugs necessary for treatment. In rare cases, it can even exclude natural molecules, and hormones needed for development or growth.

Allan-Herndon-Dudley Syndrome, or AHDS, is one of these rare cases. AHDS ocurrs when the brain is deprived of the thyroid hormone. As a result, crucial psychomotor skills fail to develop, significant cognitive impairment occurs, and the patient often experiences muscular atrophy. So far, AHDS has only been observed in males because it is a X-linked congenital disease. There is no known treatment for AHDS. Research on this rare and peculiar condition is even more complicated, because it only seems to affect human beings. It is impossible to observe in animal models. To read more about this rare condition, click here.

Until now, researchers have never created a model of a blood-brain barrier abnormality using patient cells. A scientific team from University of Wisconsin-Madison and Cedars-Sinai in Los Angles have accomplished this. Through the use of pluripotent stem cells, they have managed to recreate not only the disease, but a laboratory model of the patient’s blood-brain barrier. It’s now possible to study the barrier itself more closely, as well as the patterns and paths the disease takes from onset. Researchers hope that the study of this new model will allow them to pinpoint new and effective therapies against AHDS.

Although this research primarily targets AHDS, it may also prove useful for reasearch of other neurological diseases. Findings discovered by the AHDS team are already being implemented to study other diseases, such as Alzheimer’s and Huntington’s, which could also involve blood-brain barrier complications.


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