The incidence of hyperbilirubinemia is high clinically, which is difficult to cure by medication, surgery or interventional therapies. Non-bioartificial liver is the main alternative in the blood purification for hype...The incidence of hyperbilirubinemia is high clinically, which is difficult to cure by medication, surgery or interventional therapies. Non-bioartificial liver is the main alternative in the blood purification for hyperbilirubinemia, which includes plasma exchange, hemoperfusion, hemodialysis, molecular adsorbent recycling system and so on. The research results and clinical experiences in China show that these methods are effective in lowering high levels of bilirubin with fewer side effects. The hyperbilirubinemias of different causes, with different complications or accompanying different diseases can be treated by different methods. Bioartificial liver, hybrid artificial liver support system and adsorbent membrane material have also been studied and their development in reducing hyperbilirubinemias has been achieved. This article gives a brief overview on the actuality and research improvement in blood purification for hyperbilirubinemia in China.展开更多
Objective To prepare rat heme oxygenase 1 (HO 1) mutants and to determine the activity and inhibition of this mutated enzyme Methods pcDNA3HO1 containing truncated native rat HO 1 cDNA and pcDNA3HO1Δ25 carr...Objective To prepare rat heme oxygenase 1 (HO 1) mutants and to determine the activity and inhibition of this mutated enzyme Methods pcDNA3HO1 containing truncated native rat HO 1 cDNA and pcDNA3HO1Δ25 carrying mutated rat HO 1 cDNA (His25Ala) were constructed, respectively COS 1 cells transfected with pcDNA3HO1 and pcDNA3HO1Δ25 were collected and their activities were analyzed Results Native rat HO 1 was highly expressed in transfected cells and its activity was 13?688-15?600?U/mg protein per hour However, the enzyme activity of mutated HO 1 declined and the value was 1948-2160?U/mg protein per hour When an equal amount of mutant was added to the enzyme reaction system, the level of bilirubin decreased by 42% Conclusion The His25Ala mutant reduced the formation of bilirubin, suggesting that the mutant could competely bind the heme with native enzyme展开更多
Cdgler-Najjar syndrome type Ⅰ （CN-I） is the most severe type of hereditary unconjugated hyperbilirubinemia. It is caused by homozygous or compound heterozygous mutations of the UDP-glycuronosyltransferase gene （UG...Cdgler-Najjar syndrome type Ⅰ （CN-I） is the most severe type of hereditary unconjugated hyperbilirubinemia. It is caused by homozygous or compound heterozygous mutations of the UDP-glycuronosyltransferase gene （UGT1A1） on chromosome 2q37. Two patients clinically diagnosed with CN-I were examined in this paper. We sequenced five exons and their flanking sequences, specifically the promoter region of UGT1A 1, of the two patients and their parents. Quantitative real-time polymerase chain reaction （qRT-PCR） was used to determine the UGT1A1 gene copy number of one patient. In patient A, two mutations, c.239_245delCTGTGCC （p.Pro80HisfsX6; had not been reported previously） and c.1156G〉T （p.Va1386Phe）, were identified. In patient B, we found that this patient had lost heterozygosity of the UGTIA1 gene by inheriting a deletion of one allele, and had a novel mutation c.1253delT （p.Met418ArgfsX5） in the other allele. In summary, we detected three UGTIA 1 mutations in two CN-I patients： c.239_ 245delCTGTGCC （p.Pro80HisfsX6）, c.1253delT （p.MeH18ArgfsX5）, and c.1156G〉T （p.Va1386Phe）. The former two mutations are pathogenic; however, the pathogenic mechanism of c.1156G〉T （p.Va1386Phe） is unknown.展开更多
文摘The incidence of hyperbilirubinemia is high clinically, which is difficult to cure by medication, surgery or interventional therapies. Non-bioartificial liver is the main alternative in the blood purification for hyperbilirubinemia, which includes plasma exchange, hemoperfusion, hemodialysis, molecular adsorbent recycling system and so on. The research results and clinical experiences in China show that these methods are effective in lowering high levels of bilirubin with fewer side effects. The hyperbilirubinemias of different causes, with different complications or accompanying different diseases can be treated by different methods. Bioartificial liver, hybrid artificial liver support system and adsorbent membrane material have also been studied and their development in reducing hyperbilirubinemias has been achieved. This article gives a brief overview on the actuality and research improvement in blood purification for hyperbilirubinemia in China.
基金ThisprojectwassupportedbyagrantfromtheNationalNaturalScienceFoundationofChina (No 3 960 0 15 9)
文摘Objective To prepare rat heme oxygenase 1 (HO 1) mutants and to determine the activity and inhibition of this mutated enzyme Methods pcDNA3HO1 containing truncated native rat HO 1 cDNA and pcDNA3HO1Δ25 carrying mutated rat HO 1 cDNA (His25Ala) were constructed, respectively COS 1 cells transfected with pcDNA3HO1 and pcDNA3HO1Δ25 were collected and their activities were analyzed Results Native rat HO 1 was highly expressed in transfected cells and its activity was 13?688-15?600?U/mg protein per hour However, the enzyme activity of mutated HO 1 declined and the value was 1948-2160?U/mg protein per hour When an equal amount of mutant was added to the enzyme reaction system, the level of bilirubin decreased by 42% Conclusion The His25Ala mutant reduced the formation of bilirubin, suggesting that the mutant could competely bind the heme with native enzyme
文摘Cdgler-Najjar syndrome type Ⅰ （CN-I） is the most severe type of hereditary unconjugated hyperbilirubinemia. It is caused by homozygous or compound heterozygous mutations of the UDP-glycuronosyltransferase gene （UGT1A1） on chromosome 2q37. Two patients clinically diagnosed with CN-I were examined in this paper. We sequenced five exons and their flanking sequences, specifically the promoter region of UGT1A 1, of the two patients and their parents. Quantitative real-time polymerase chain reaction （qRT-PCR） was used to determine the UGT1A1 gene copy number of one patient. In patient A, two mutations, c.239_245delCTGTGCC （p.Pro80HisfsX6; had not been reported previously） and c.1156G〉T （p.Va1386Phe）, were identified. In patient B, we found that this patient had lost heterozygosity of the UGTIA1 gene by inheriting a deletion of one allele, and had a novel mutation c.1253delT （p.Met418ArgfsX5） in the other allele. In summary, we detected three UGTIA 1 mutations in two CN-I patients： c.239_ 245delCTGTGCC （p.Pro80HisfsX6）, c.1253delT （p.MeH18ArgfsX5）, and c.1156G〉T （p.Va1386Phe）. The former two mutations are pathogenic; however, the pathogenic mechanism of c.1156G〉T （p.Va1386Phe） is unknown.
