SNP Shot: Genomic Insights

Cerebral cavernous malformations (CCMs) are clusters of abnormally enlarged and misshapen capillaries in the brain. These fragile capillaries have unusually thin walls and lack the supportive elastic tissue found in healthy blood vessels. This lack of support makes them susceptible to leaking, which can lead to various health issues. While CCMs can develop anywhere in the body, they typically only cause significant symptoms when located in the brain or spinal cord.

About one in four people with CCMs remain asymptomatic throughout their lives. However, others experience a range of symptoms, from headaches and seizures to paralysis, hearing or vision problems, and bleeding within the brain (cerebral hemorrhage). In severe cases, cerebral hemorrhages can be fatal. The severity of CCMs is influenced by their location and number, and both can change over time.

CCMs present in two forms: familial and sporadic. The familial form is inherited from a parent and is often characterized by multiple CCMs. The sporadic form arises in individuals with no family history of the condition and usually involves only a single malformation.

Inheritance:

The familial form of CCMs is typically inherited in an autosomal dominant manner. This means that only one copy of a mutated gene in each cell is enough to cause the condition. Affected individuals inherit this mutated gene from one parent who also has the condition. However, most CCM cases are sporadic, occurring in people with no known family history of the disorder.