CCM2

CCM2 is a gene that encodes a protein involved in the formation and maintenance of blood vessels in the brain. Mutations in this gene are associated with cerebral cavernous malformations (CCM), a condition characterized by abnormally formed blood vessels in the brain that can lead to seizures, headaches, and hemorrhagic stroke.

Function

The CCM2 gene provides instructions for making a protein that is part of a complex involved in the structural integrity of blood vessels. This protein interacts with other proteins encoded by the CCM1 and CCM3 genes to form a complex that is crucial for maintaining the normal architecture of blood vessels in the brain. The CCM2 protein is also known as "malcavernin."

Clinical Significance

Mutations in the CCM2 gene can lead to the development of cerebral cavernous malformations. These malformations are clusters of dilated blood vessels that can cause a range of neurological symptoms depending on their size and location. Common symptoms include seizures, headaches, and neurological deficits. In some cases, these malformations can bleed, leading to more severe complications such as hemorrhagic stroke.

Genetics

CCM2 is one of the three genes known to be associated with familial forms of cerebral cavernous malformations. The other two genes are CCM1 (also known as KRIT1) and CCM3 (also known as PDCD10). Mutations in any of these genes can disrupt the function of the protein complex they form, leading to the development of CCMs.

Diagnosis and Management

Diagnosis of CCMs typically involves imaging studies such as magnetic resonance imaging (MRI) to visualize the malformations. Genetic testing can confirm mutations in the CCM2 gene. Management of CCMs may include monitoring, medical therapy to control symptoms, and surgical intervention in cases where the malformations cause significant symptoms or complications.

Research Directions

Ongoing research is focused on understanding the molecular mechanisms by which CCM2 and its associated protein complex maintain vascular integrity. There is also interest in developing targeted therapies that can address the underlying genetic causes of CCMs.

Also see

• Cerebral cavernous malformation
• CCM1
• CCM3
• Genetic disorders
• Vascular malformations