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Association between the presence of genetic variants and epigenetic and the development and prognosis of cerebral arteriovenous malformation.

Abstract

Cerebral arteriovenous malformation (AVM) is a disease characterized by a tangle of dysplastic blood vessels, with abnormal connections between arteries and veins, without the interposition of capillaries. These formations increase the risk of intracerebral hemorrhage, which can result in severe neurological deficits and mortality. Although most AVMs are sporadic, studies suggest that genetic and epigenetic factors play an important role in the development and prognosis of this condition. Thus, this project investigates how genetic variants and DNA methylation patterns influence the formation and clinical behavior of AVMs. The main objective is to evaluate the association between the presence of genetic and epigenetic variants and the development and prognosis of AVMs. The study aims to identify mutations in genes such as ENG, SMAD4, ACVRL1, KRAS, and others, as well as analyze the DNA methylation profile in tissue samples from AVMs, correlating these data with the clinical and radiological outcomes of patients. The research includes the analysis of samples from 24 adult patients, all of whom underwent surgical resection of AVMs. Biological samples (nidus, brain parenchyma, and feeding vessels) will be processed for DNA extraction and evaluation of genetic variants using next-generation sequencing (NGS). In addition, the DNA methylation profile will be analyzed in samples from ruptured and unruptured AVMs to investigate possible epigenetic patterns associated with hemorrhage risk and other clinical outcomes. Clinical, laboratory, and neuropsychological data will also be collected and analyzed. The study expects to identify genetic variants and epigenetic patterns associated with the development and prognosis of AVMs, providing a basis for the discovery of new diagnostic and prognostic biomarkers, as well as potential molecular targets for future therapies. These findings may contribute to improved treatment planning, particularly in cases where surgical interventions present high risk. (AU)

Articles published in Agência FAPESP Newsletter about the research grant:
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VEICULO: TITULO (DATA)
VEICULO: TITULO (DATA)