CCM2 Human

The CCM2 gene encodes a protein that is part of a complex involved in maintaining the integrity of blood vessels. Mutations in the CCM2 gene disrupt this complex, leading to the formation of cavernous malformations . The pathogenesis of CCMs follows a “two-hit” hypothesis, where both alleles of a CCM gene must be inactivated for the malformation to develop . This inactivation can occur through a combination of germline and somatic mutations .

Patients with CCMs may present with a variety of symptoms, including:

• Chronic headaches
• Seizures
• Hemorrhagic strokes
• Focal neurological deficits

The severity of symptoms can vary depending on the size and location of the malformations .

Research on CCMs has led to the development of animal models that mimic the human disease. These models have been crucial in understanding the molecular mechanisms underlying CCM formation and in testing potential therapies . For example, mouse models with mutations in the CCM2 gene have been used to study the disease’s progression and to identify therapeutic targets .

Currently, there is no cure for CCMs, and treatment is primarily symptomatic. Surgical resection of the malformations is an option for patients with severe symptoms or recurrent hemorrhages . Ongoing research aims to develop targeted therapies that can prevent the formation or progression of CCMs by addressing the underlying genetic mutations .