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Copper transportion of WD protein in hepatocytes from Wilson disease patients in vitro

World Journal of Gastroenterology 2001年第6期7卷 846-851页

作者： Guo-Qing Hou~1 Xiu-Ling Liang~2 Rong Chen~2 Li-Wen Tang~3 Ying Wang~2 Ping-Yi Xu~2 Ying-Ru Zhang~2 Cui-Hua Ou~2 1 Department of Neurology.Guangzhou First Municipal People’s Hospital,Guangzhou Medical College,Guangzhou 510180,Guangdong Province.China2 Department of Neurology.First Affiliated Hospital.Sun Yat-Sen University of Medical Sciences.Guangzhou 510080.Guangdong Province.China3 Department of Pharmacology,University of Kentucky.Lexington,KY 40506.USA Department of Neurology Guangzhou First Municipal People's Hospital Guangzhou Medical College Guangdong Province China. spring-hua@***

AIM: To study the effect of copper transporting P-type ATPase in copper metabolism of hepatocyte and pathogenesis of Wilson disease (WD). METHODS: WD copper transporting properties in some organelles of the cultured hepatocytes were studied from WD patients and normal *** cultured hepatocytes were incubated in the media of copper 15 mg x L(-1) only, copper 15 mg x L(-1) with vincristine (agonist of P-type ATPase) 0.5mg x L(-1), or copper 15 mg x L(-1) with vanadate (antagonist of P-type ATPase) 18.39 mg x L(-1) separately. Microsome (endoplasmic reticulum and Golgi apparatus), lysosome, mitochondria, and cytosol were isolated by differential centrifugation. Copper contents in these organelles were measured with atomic absorption spectrophotometer, and the influence in copper transportion of these organelles by vanadate and vincristine were comparatively analyzed between WD patients and controls. WD copper transporting P-type ATPase was detected by SDS-PAGE in conjunction with Western blot in liver samples of WD patients and controls. RESULTS: The specific WD proteins (M(r)155,000 lanes) were expressed in human hepatocytes, including the control and WD patients. After incubation with medium containing copper for 2 h or 24 h, the microsome copper concentration in WD patients was obviously lower than that of controls, and the addition of vanadate or vincristine would change the copper transporting of microsomes obviously. When incubated with vincristine, levels of copper in microsome were significantly increased, while incubated with vanadate, the copper concentrations in microsome were obviously decreased. The results indicated that there were WD proteins, the copper transportion P-type ATPase in the microsome of hepatocytes. WD patients possessed abnormal copper transporting function of WD protein in the microsome, and the agonist might correct the defect of copper transportion by promoting the activity of copper transportion P-type ATPase. CONCLUSION: Cop

关键词： adenosinetriphosphatase Adolescent Adult Cation Transport Proteins Copper Female Hepatocytes Hepatolenticular Degeneration Humans Male Research Support, Non-U.S. Gov't

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Identification and analysis of mutations of the Wilson disease gene in Chinese population

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Chinese Medical Journal 2000年第1期113卷 40-43页

作者：吴志英王柠慕容慎行林珉婷 Institute of Neurological Sciences Department of Neurology Fujian Medical University Fuzhou 350005 China

OBJECTIVE: To investigate the characteristics of mutations in exon 3-20 of Wilson disease (WD) gene and their consequences in Chinese population. METHODS: Sixty unrelated normal Chinese and forty-four unrelated WD patients were studied. Genomic DNA was prepared from peripheral blood leukocytes by a salt-out method. Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and subsequently direct sequencing were used to identify the mutations and polymorphisms of WD gene. RESULTS: Ten different mutations have been found, accounting for 52% of the mutant genes. Five of them are identified as novel missense mutations. Mutations Arg778Leu, Thr935Met and Ala874Val were represented respectively in 28.4%, 6.8% and 3.4% of WD chromosomes. The remaining mutations were found rare and limited to one or two patients. A total of 11 patients were homozygous for a single mutation, and 17 patients were in a compound heterozygous state with or without a known mutation. CONCLUSION: In Chinese, WD seems to result from two or three relatively common mutations and a large number of rare mutations. Arg778Leu and Thr935Met might be hotspots of mutation in Chinese population. The results indicated that the feature of mutations of WD gene is different between Chinese and the Western. Instead of exon 14 and exon 18, we had to select exon 8 and exon 12 first to detect mutations of WD gene in Chinese. It is of great importance to establish a direct diagnostic method for WD. This study improves our knowledge on functional domains of the WD gene, and helps elucidate the wide spectrum of manifestations of the disease as well.

关键词： Mutation adenosinetriphosphatase Adolescent Adult Cation Transport Proteins Child Female Hepatolenticular Degeneration Humans Male Research Support, Non-U.S. Gov't

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Alterations of ATPase activity and erythrocyte oxygen consumption in patients with liver-blood deficiency syndrome

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World Journal of Gastroenterology 1997年第3期3卷 52-53页

作者： SHI Lin Jie 1, LIU Jun Fan 2, ZHANG Zi Qiang 1, LU Yi Qin 2, SHU Yi Gang 3, CHEN Guo Lin 1, XIN Zhi Hua 1 and XU Jin Yao 2

ＡｌｔｅｒａｔｉｏｎｓｏｆＡＴＰａｓｅａｃｔｉｖｉｔｙａｎｄｅｒｙｔｈｒｏｃｙｔｅｏｘｙｇｅｎｃｏｎｓｕｍｐｔｉｏｎｉｎｐａｔｉｅｎｔｓｗｉｔｈｌｉｖｅｒｂｌｏｏｄｄｅｆｉｃｉｅｎｃｙｓｙｎｄｒｏｍｅＳＨＩＬｉｎ... 详细信息

ＡｌｔｅｒａｔｉｏｎｓｏｆＡＴＰａｓｅａｃｔｉｖｉｔｙａｎｄｅｒｙｔｈｒｏｃｙｔｅｏｘｙｇｅｎｃｏｎｓｕｍｐｔｉｏｎｉｎｐａｔｉｅｎｔｓｗｉｔｈｌｉｖｅｒｂｌｏｏｄｄｅｆｉｃｉｅｎｃｙｓｙｎｄｒｏｍｅＳＨＩＬｉｎＪｉｅ１，ＬＩＵＪｕｎＦａｎ２...

关键词： erythrocytes cell membrane oxygen consumption adenosinetriphosphatase liver blood deficiency syndrome anemia,iron deficiency anemia, aplastic

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