THE EXPERIMENTAL RESEARCH FOR DEVELOPMENT OF GENE-AND DRUG-THERAPY FOR NEONATAL HYPERBILIRUBINEMIA

点击翻译按钮获取中文摘要

We re-analyzed the genetic background of patients with Gilbert's syndrome. A new kind of point mutation and decrease of frequency of TATA repeat were investigated in regulation site and five kinds of mutations were also recognized in the exons of bilirubin UGT gene. Almost all patients with Gilbert's syndrome had two mutations.The combination of injection of tin-projoporphyrin (SnPP) and photoirradiaiton reacted with neurological signs. Intra-ventral injection of SnPP showed soon and irritable neurological signs. Lysosomes prepared from suckling rat brain showed the release of arylsulfatase under lower condition of SnPP (under 10 nM).It is known that day 7 is the most critical for cerebellar hypoplasia in rats due to bilirubin. Cerebella of postnatal day 7 rats were rich in glycoproteins.Purkinje cells may be rich in N-linked oligosaccharides, with terminal sugar structures that resemble blood-group-related antigens (type H). Neuroglycan C, a new neuron specific condroitinesulfate proteoglycan, immunolocalized to the soma (P7) and the thick stems (adult), not the thin branches, of the Purkinje cells.. This finding suggests the involvement of glycoproteins in the differential adhesion of the climbing and parallel fibers with the Purkinje cell dendrites.