(April 22, 2009 - Insidermedicine) Genetic testing has revealed a potential therapeutic target for cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), according to research published in the New England Journal of Medicine.

Here is some information about CARASIL:

•    It is a genetic disease that affects the development of blood vessels.

•    It is associated with recurring strokes, bone lesions and hair loss.

•    It appears to occur most frequently in Japan.

Researchers from Niigata University conducted genetic testing on five families affected by CARASIL. They also studied the small arteries in the brains of two patients with the condition.

Mutations on a gene known as HTRA1 prevented the suppression of a family of compounds known as the TGF-ß family. These compounds are known to be involved in the growth and development of blood vessels.

Today's research suggests that inhibiting the TGF-ß family of compounds may prove to be an effective treatment for the rare genetic disease known as CARASIL.

For Insidermedicine in Depth, i'm Dr. Susan Sharma.