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Athina Samara (BRFAA, Athens, Greece)
The recently cloned DHCR24 is the enzyme that converts desmosterol to cholesterol and has been associated with neuroprotection, neurodegeneration, and tumourigenesis. Inactivating mutations of the gene cause desmosterolosis. Only 2 patients have been reported and the craniofacial and neurodevelopmental anomalies of desmosterolosis in them reveal the importance of cholesterol in prenatal development. Interestingly, DHCR24 KO mice surpassed embryonic stages & died perinatally. My work involves generation of a conditional KO mouse, while I used morpholino knockdown in zebrafish, and DHCR24 inhibitor in rats. Blocking DHCR24 gene translation by morpholinos at one-cell stage of zebrafish eggs, showed DHCR24 affects brain development. Study of morphants showed neural defects and muscle disorganization, pigmentation defects and pharyngeal arch deformities. Overall the data unveiled an essential role for DHCR24 in early morphogenesis. Although data from human patients are limited, results with zebrafish knockdowns matched the phenotype and demonstrated microcephaly, enlarged ventricles, etc. Using compound U18666A on the start of pregnancy on rats, I monitored rat pregnancy with ultrasound