KRIT1

The KRIT1 gene (also known as the CCM1 gene) provides instructions for making a protein that likely plays an important role in the formation of blood vessels, especially capillaries, during the development of an embryo. While the exact function of the KRIT1 protein is not clearly understood, studies suggest that it influences the movement and structure of cells during the development of blood vessels. The KRIT1 protein may also be involved in creating the boundary between the walls of capillaries and the surrounding tissue in the brain, called the blood-brain barrier. This barrier protects the brain's delicate nerve tissue by preventing many types of molecules from entering the brain. Research suggests that the KRIT1 protein may also help maintain the structure and function of blood vessels after they have formed.

cerebral cavernous malformation - caused by mutations in the KRIT1 gene

More than 100 mutations that cause cerebral cavernous malformations have been identified in the KRIT1 gene. Virtually all of these mutations place a premature stop signal in the instructions for making the KRIT1 protein, preventing adequate KRIT1 protein production. Without enough KRIT1 protein, blood vessels do not form properly and cavernous malformations can develop.

Mutations in the KRIT1 gene may account for up to 40 percent of all familial cerebral cavernous malformation cases. One particular mutation is responsible for up to 70 percent of cerebral cavernous malformation cases in people of Hispanic heritage. This mutation replaces one DNA building block (nucleotide base) with a different base at position 1363 in the KRIT1 gene, written as 1363C>T.