![]() ![]() Additionally, while inclusion of introns can enhance gene expression, optimization of these introns, and in particular removal of cryptic ATGs and splice sites, is an important maneuver to enhance safety and efficacy of gene transfer. Our results indicate that transgene codon-optimization is a strategy that can improve efficacy of gene transfer but needs to be carefully tested in vitro and in vivo. We also optimized noncoding sequences in the transgene expression cassette. For this purpose, we designed and tested in vitro and in vivo multiple codon-optimized UGT1A1 transgene cDNAs. In an effort to translate to the clinic an adeno-associated virus vector mediated liver gene transfer approach to treat Crigler-Najjar syndrome, we developed and optimized a vector expressing the UGT1A1 transgene. Os autores pretendem com este caso alertar para uma causa rara de icterÃcia, que não teve a apresentação tÃpicaĪ translationally optimized AAV-UGT1A1 vector drives safe and long-lasting correction of Crigler-Najjar syndromeįull Text Available Crigler-Najjar syndrome is a severe metabolic disease of the liver due to a reduced activity of the UDP Glucuronosyltransferase 1A1 (UGT1A1 enzyme. Neste caso, a apresentação neonatal precoce e os valores de bilirrubina muito elevados, que não cediam totalmente à fototerapia intensiva, levaram inicialmente à suspeita de sÃndrome de Crigler-Najjar tipo 1, que é a forma mais grave. ![]() ![]() SÃndrome de Crigler-Najjar tipo 2: um caso atÃpico = Crigler-Najjar syndrome type 2: an atypical caseĭirectory of Open Access Journals (Sweden)Ĭonclusões: A sÃndrome de Crigler-Najjar tipo 2, embora fenotipicamente semelhante ao tipo 1, tem tratamento e prognóstico diferentes. This hepatic enzyme catalyzes the glucuronidation of bilirubin, an essential step in excretion into bile of this neurotoxic compound. Montenegro Bosma, Piter J.Ĭrigler-Najjar (CN) syndrome is a recessive inherited disorder caused by deficiency of uridine diphosphoglucuronosyl transferase 1A1. Towards Liver-Directed Gene Therapy for Crigler-Najjar Syndrome We describe two pregnancies in a patient with Crigler-Najjar type 2, who was carefully monitored prior to and during pregnancy Langendonk, J.G.ĭuring pregnancy, the developing foetus in mothers with Crigler-Najjar type 1 and 2 is exposed to raised levels of unconjugated bilirubin, with the risk of neurotoxicity. Recommendations for pregnancies in patients with crigler-najjar syndrome ![]()
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