University of Southern Denmark

About: University of Southern Denmark is a education organization based out in Odense, Syddanmark, Denmark. It is known for research contribution in the topics: Population & Randomized controlled trial. The organization has 11928 authors who have published 37918 publications receiving 1258559 citations. The organization is also known as: SDU.

BODIPY-Cholesterol: A New Tool to Visualize Sterol Trafficking in Living Cells and Organisms

Abstract: Analysis of sterol distribution and transport in living cells has been hampered by the lack of bright, photostable fluorescent sterol derivatives that closely resemble cholesterol. In this study, we employed atomistic simulations and experiments to characterize a cholesterol compound with fluorescent boron dipyrromethene difluoride linked to sterol carbon-24 (BODIPY-cholesterol). This probe packed in the membrane and behaved similarly to cholesterol both in normal and in cholesterol-storage disease cells and with trace amounts allowed the visualization of sterol movement in living systems. Upon injection into the yolk sac, BODIPY-cholesterol did not disturb zebrafish development and was targeted to sterol-enriched brain regions in live fish. We conclude that this new probe closely mimics the membrane partitioning and trafficking of cholesterol and, because of its excellent fluorescent properties, enables the direct monitoring of sterol movement by time-lapse imaging using trace amounts of the probe. This is, to our knowledge, the first cholesterol probe that fulfills these prerequisites.

The phenotypic spectrum of SCN8A encephalopathy

Abstract: Objective: SCN8A encodes the sodium channel voltage-gated α8-subunit (Na v 16) SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders We aimed to delineate the phenotype associated with SCN8A mutations Methods: We used high-throughput sequence analysis of the SCN8A gene in 683 patients with a range of epileptic encephalopathies In addition, we ascertained cases with SCN8A mutations from other centers A detailed clinical history was obtained together with a review of EEG and imaging data Results: Seventeen patients with de novo heterozygous mutations of SCN8A were studied Seizure onset occurred at a mean age of 5 months (range: 1 day to 18 months); in general, seizures were not triggered by fever Fifteen of 17 patients had multiple seizure types including focal, tonic, clonic, myoclonic and absence seizures, and epileptic spasms; seizures were refractory to antiepileptic therapy Development was normal in 12 patients and slowed after seizure onset, often with regression; 5 patients had delayed development from birth All patients developed intellectual disability, ranging from mild to severe Motor manifestations were prominent including hypotonia, dystonia, hyperreflexia, and ataxia EEG findings comprised moderate to severe background slowing with focal or multifocal epileptiform discharges Conclusion: SCN8A encephalopathy presents in infancy with multiple seizure types including focal seizures and spasms in some cases Outcome is often poor and includes hypotonia and movement disorders The majority of mutations arise de novo, although we observed a single case of somatic mosaicism in an unaffected parent