Genetics and Health

Collagen IV α1 Gene and Stroke

by Hsien Hsien Lei, PhD on April 13th, 2006

The majority of strokes are caused by problems in the large arteries that supply the brain with blood. More difficult to treat, strokes caused by disease in the small, inaccessible blood vessels within the brain may be partly due to a mutation in the collagen IV α1 gene that encodes a protein which is an integral part of blood vessel walls.

An abnormal collagen IV α1 protein makes small blood vessels more fragile than normal. Under stressful conditions, such as birth trauma, other forms of trauma, or high blood pressure, individuals with the collagen IV α1 gene mutation are more susceptible to stroke.

These findings were first discovered in mice then in six human families. The frequency of this specific gene mutation in the general population is still unknown but related mutations in the collagen IV α1 gene may prove to be involved in strokes as well.

As an aside, researcher Simon W. M. John at the Jackson Laboratory in Bar Harbor, Maine (a gorgeous place, by the way!) explained why animal models are so important:

John added that the discovery “is a nice example of using an animal model to learn about the basic mechanism of a disease that is directly relevant to a human condition.” Evidence shows that the mutation in mice occurs in “exactly the same gene” that causes blood vessel weakening in the few known human families, John said.

I’m sure animal rights supporters would still have something to complain about. I, however, side with Pro-Test.

HHMI News, April 6, 2006

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POSTED IN: Genetics of Disease