PDCD10

The PDCD10 gene (previously known as the CCM3 gene) provides the instructions for making a protein called programmed cell death 10. Although the exact function of this protein is unclear, researchers believe that it plays several roles in cells. This protein is thought to be involved in pathways that signal cells to die when they have completed a certain number of cell divisions or accumulated errors in their DNA. This programmed cell death is called apoptosis. The programmed cell death 10 protein is also believed to be involved in the formation, maturation, and maintenance of blood vessels.

cerebral cavernous malformation - caused by mutations in the PDCD10 gene

Several types of mutations in the PDCD10 gene have been identified in families with cerebral cavernous malformations. These mutations include a deletion of the entire gene, deletion of small segments of DNA, and changes in a single DNA building block (base pair). These mutations result in an absent or abnormal programmed cell death 10 protein. It is unclear how mutations in the PDCD10 gene lead to the formation of cerebral cavernous malformations.

Mutations in the recently identified PDCD10 gene account for 10 percent to 20 percent of familial cerebral cavernous malformation cases.