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Cerebral Cavernous vascular tumors (CCM) system, a common central nervous system vascular malformations sporadic and hereditary diseases
.
This hemangioma is composed of vascular sinuses of varying sizes.
Blood vessel
Because CCM often has no abnormal vascular clusters during angiography, it is classified as an occult vascular malformation
.
In fact, the disease is not a real tumor, but a vascular malformation lacking arterial components
The incidence in the population is estimated to be 0.
Current studies have found that although familial CCMs are related to loss-of-function mutations in KRIT1 (CCM1), CCM2 or PDCD10 (CCM3), the genetic causes of sporadic CCMs that account for 80% of cases are still not fully understood
.
To this end, experts from the Department of Neurosurgery of the Sorbonne University, a public hospital in Paris, France, conducted a study, and the results were published in the journal NEJM
The researchers used the prostaglandin D2 synthase (PGDS) promoter to create two mouse models that carry mutations found in human meningiomas
.
Targeted DNA sequencing was performed on the patient's surgically removed CCM, and the findings of the experiment were confirmed by droplet digital polymerase chain reaction analysis
The researchers found that in mice expressing one of the two common genetic drivers of meningiomas in PGDS-positive cells-Pik3caH1047R or AKT1E17K, a typical lineage of CCMs (22% and 11% of mice, respectively) , Rather than meningioma, which prompted them to analyze tissue samples of sporadic CCMs from 88 patients
.
In PGDS-positive cells In mice expressing one of the two common genetic drivers of meningiomas-Pik3caH1047R or AKT1E17K, a typical lineage of CCMs (22% and 11% of mice, respectively) appears.
Researchers detected 39% and 1% of somatically activated PIK3CA and AKT1 mutations in the patient’s diseased tissues, respectively
.
Only 10% of the lesions carry mutations in the CCM gene
Researchers detected 39% and 1% of somatically activated PIK3CA and AKT1 mutations in the patient’s diseased tissues, respectively
It can be seen that in the tissue samples of sporadic CCM, there are more mutations in PIK3CA than in any other gene
references:
Somatic PIK3CA Mutations in Sporadic Cerebral Cavernous Malformations.
Somatic PIK3CA Mutations in Sporadic Cerebral Cavernous Malformations.
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