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A genetic quest: How does the genetic mystery of CCM change our understanding of this disease?
Cerebral lacunar malformation (CCM) is a lacunar hemangioma that develops in the central nervous system. The disease is characterized by a dilated vasculature and relatively irregular structures, usually in the brain, and may be associated with a variety of clinical symptoms, such as headache, seizures, and neurological deficits, but may also be asymptomatic.
Many cerebral lacunar malformations are discovered incidentally, particularly during magnetic resonance imaging (MRI) done as part of a study to investigate other conditions.
Clinical symptoms and diagnosis
The clinical symptoms of CCM usually depend on the location and size of the tumor. Common symptoms include recurring headaches and seizures. These symptoms may prompt patients to undergo imaging examinations, and MRI technology is one of the main methods for diagnosing CCM, especially the use of gradient echo sequences to reveal possible microlesions.
When a brain bleed occurs, a CT scan can show new bleeding more quickly, allowing doctors to make a prompt diagnosis.
Genetics
Studies have shown that familial cases of CCM often involve three known genetic loci. Mutations in the CCM1 gene are associated with some cases in South and Southwestern America, which is directly related to early Spanish immigrants and is a typical founder effect. At the same time, the functions of CCM2 and CCM3 genes are not yet fully understood, but their roles in cell signaling pathways are being explored by more and more studies.
CCM gene mutations account for 70% to 80% of all CCM cases. The remaining 20% to 30% of cases may be caused by unidentified genes.
Pathological mechanism
Related studies have found that the pathogenesis of CCM is very complex. The endothelial cells of these vascular malformations undergo endothelial-to-mesenchymal transition, leading to further disease progression. The molecular mechanisms of this process are still being explored, including phenomena such as dysregulation of angiogenesis and cellular hypoxia.
Treatment and Management
Currently, there is no drug treatment specifically for CCM, and the only treatment is surgical resection. However, the risks and effects of surgery vary greatly depending on the location of the CCM, so adequate examination and evaluation are required before deciding on treatment.
EpidemiologyThe incidence of CCM in the general population is approximately 0.5%, and clinical symptoms usually first appear between the ages of 20 and 30. Initially believed to be a congenital lesion, as research progressed, it was discovered that CCM could also occur independently in the form of "de-neoplasmosis".
As with some cancers, treatment of CCM lesions appears to require inhibition of tumor suppressor gene activity and activation of oncogenic genes.
Future Research Directions
Understanding of CCM is still evolving. Recent studies have prompted us to re-evaluate the diversity of these lesions and the genetic factors behind them. In the future, we may gain a deeper understanding of how these genes influence vascular stability and the occurrence of lesions in the internal brain environment.
As we explore the genetic mysteries of CCM, is it possible that we may be able to uncover new directions and hopes for future treatments?
