Moyamoya Syndrome Risk Factors & Causes

HealthPrep Staff

Genetic Link

Photo Credit: Dreamstime

Research into the genetics of Moyamoya disease has been limited, but based on information about who the disease affects and how it does so, there is strong evidence indicating a genetic link. If a person's family member developed Moyamoya disease, they have a risk factor between thirty and forty times higher than the general population. This risk factor was calculated based on statistics regarding the individuals with Moyamoya syndrome. Thirty to forty times more patients had a relative with this condition than those who had no family history of the disease.

Some research indicates changes to the RNF213 gene might be related to Moyamoya syndrome. Other unidentified genes may also play a part in the development of this condition. The purpose of the RNF213 gene is to provide instructions for the construction of a protein with an unknown use. Studies suggest RNF213's protein is a component of blood vessel development. When this gene creates an incorrect protein, it's possible this causes the gradual blocking of blood vessels in the brain.

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Genetic Link

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