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Is Moyamoya A Genetic Disease?

Moyamoya disease refers to blood vessels’ disorder in the human brain, especially in the arteries belonging to one’s internal carotid and other arteries, which branch from them. The vessels responsible to provide blood rich in oxygen to your brain thus become narrow with time.

Narrowing of such blood vessels leads to reduction in the flow of blood into the brain. Thus, to compensate, the formation of new small networks of fragile blood vessels takes place, which are visible only during an angiogram test and it resembles any puff of smoke. Based on this, moyamoya condition has obtained its name in Japan.

Is Moyamoya A Genetic Disease?

Now, the question that strikes in our mind is that whether moyamoya disease is a genetic one or not. For this, we have to analyze the genetic factor in detail and the inheritance pattern.

Until now, doctors have failed to understand the genetics behind the Moyamoya disease properly. However, medical studies and research results have recommended that the condition has always passed among members of the family because of changes take place in a particular type of gene i.e. RNF 213. Moreover, researchers have predicted that other genes may also involve in moyamoya disease, but until now has not identified in any research study. Besides the mentioned gene, you may affect by moyamoya disease because of inflammation and infection, both of which have prime roles in the development of your condition.

How RNF213 Gene Mutation Contributes To Moyamoya Disease?

RNF213 gene gives the necessary instruction to produce RNF 213 responsible for the proper development of various blood vessels. Thus, changes or mutations in RNF213 gene are responsible to replace amino acids i.e. protein building blocks present in the RNF213 protein. However, the effect associated with the mentioned changes on RNF213 protein function is until now unknown and researchers also have doubt about the contribution of such changes to the narrowing of your blood vessels or the characteristic growth of blood vessels associated with Moyamoya disease.

Because of this, people suffering from Moyamoya disease experience proteins in elevated levels involved in their growth of tissues and cells, along with the growth of their blood vessels for various unknown reasons. Excess of RNF213 proteins lead to the growth of many new blood vessel characteristics related to Moyamoya disease.

Inheritance Pattern

Until now, about 15 percent of people in Japan suffering from Moyamoya disease have few of their family members suffering with the condition. This fact implies that the condition passes among generations and in family members even though the exact inheritance pattern is still unknown for everyone. Research also revealed that the condition follows autosomal dominant pattern, according to which a copy of any altered gene present in a cell is enough to cause the disease. On the other side, a few people with the copy of altered gene never develops the respective condition, in which patient has reduced penetration. (1)

Facts On Moyamoya Disease

  • Moyamoya disease starts in patients around 5 years age or in 30 years or 40 years age.
  • Inadequate supply of blood to the brain results in many symptoms related to the disorder, which include TIAs i.e. transient ischemic attacks, temporary strokes or related episodes, seizures and strokes.
  • Furthermore, growth in the fragile blood vessels may result in the development of bulges, known commonly as aneurysms.
  • In some cases, Moyamoya disease may break open resulting in hemorrhage or bleeding in one’s brain.
  • Affected people may also develop recurrent headache problems, chorea or involuntary type of jerking body movements and significant decline in their thinking abilities.
  • If you leave your condition untreated, your symptoms may become worse with time.


To conclude, we should say that Moyamoya disease is a genetic one and RNF213 gene mutation is the contributor of the problem. However, other genetic mutations may also involve in causing Moyamoya condition.


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Team PainAssist
Team PainAssist
Written, Edited or Reviewed By: Team PainAssist, Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:October 12, 2021

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