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Chinese scholars have made progress in the genetic mechanism of cerebrospinal cavernous malformation

 Last Update: 2021-11-14
 Source: Internet
 Author: User

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Cavernous Malformation (CM) is the second most common hemorrhagic vascular abnormality in the central nervous system
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Previous studies have found that the three germline mutant genes of familial CM are CCM1 (KRIT1), CCM2 (MGC4607) and CCM3 (PDCD10), but the genetic background of sporadic CM, which accounts for 85% of the disease, has been unclear

This study revealed for the first time that somatic mutations in MAP3K3 and PIK3CA are important genetic mechanisms for sporadic sporadic cavernous malformations in the central nervous system, changing the traditional understanding of germline mutations previously thought to provide a basis for in-depth understanding of the disease and establishment of molecular typing In the future, it may be possible to predict molecular classification based on imaging characteristics and adopt corresponding treatment strategies

Figure 1 Reveals the important genetic mechanism of sporadic cavernous malformations in the central nervous system (Brain cover article)

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