The involvement of genetic variation in the cAMP pathway in the family- based cerebral infarction

Abstract

The evaluation of genetic predisposition for early cerebral infarction(ECI)may contribute to the recognition of individuals at increased risks and thereby prevent CI in clinical practice. The study was to investigate genetic risk of ECI with ischemic stroke. The proband, his father, grandfathers, and siblings have early-onset ischemic stroke with the similar clinical symptoms. Based on the MR imaging of brain with high signal on DWI, the proband and affected sibling have ischemic infarction in basal ganglia and without apparent cerebral artery stenosis. There are 19 genes with single-nucleotide mutations in 4 patients with early-onset ischemic stroke depending on whole-exome sequencing and analysis (WES) compared with control group. The mutated AKT2/FFAR2/ATP1A3/GRIN2D genes were enriched in the cAMP pathway by the KEGG pathway analysis. In summary, in this family, polygenes mutations, involved in the cAMP pathway, might be the crucial factors for the predisposition to ischemic stroke. The ascertaining of the role of genetic factors in stroke conduces to the accuracy assessment of future stroke risk among susceptible individuals.