programmed cell death 10
The PDCD10 gene (also known as CCM3) provides instructions for making a protein that appears to play a role in the structure of blood vessels. While the exact function of the PDCD10 protein is unclear, studies suggest that it works with other proteins to help strengthen the interactions between cells and limit leakage from blood vessels. This protein is also thought to be involved in pathways that signal cells to self-destruct (undergo apoptosis) when they have completed a certain number of cell divisions or accumulated errors in their DNA.
More than a dozen mutations in the PDCD10 gene have been identified in families with cerebral cavernous malformations, which are collections of blood vessels in the brain that are weak and prone to leakage. These mutations include a deletion of the entire gene, deletion of small segments of DNA, and changes in single DNA building blocks (nucleotides). These mutations result in an abnormal or absent PDCD10 protein. It is unclear how mutations in the PDCD10 gene lead to the formation of cerebral cavernous malformations.
Mutations in the PDCD10 gene account for approximately 10 percent of familial cerebral cavernous malformation cases.
- apoptosis-related protein 15
- cerebral cavernous malformation 3