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1.
2.
IgG-maleimide peroxidase, Fab'-maleimide peroxidase, polymer and monomer types of Fab'-periodate peroxidase were prepared from an antibody against rat lipoamide dehydrogenase, a component of the pyruvate dehydrogenase complex which is located in mitochondria. They were examined for immunohistochemical staining of the rat kidney. Fab'-maleimide peroxidase was the best for staining mitochondrial protein. IgG-maleimide peroxidase and the monomer type of Fab'-periodate peroxidase had the same intensity of staining. The polymer type of Fab'-periodate peroxidase could not stain the lipoamide dehydrogenase. 相似文献
3.
Gao HZ Kobayashi K Tabata A Tsuge H Iijima M Yasuda T Kalkanoglu HS Dursun A Tokatli A Coskun T Trefz FK Skladal D Mandel H Seidel J Kodama S Shirane S Ichida T Makino S Yoshino M Kang JH Mizuguchi M Barshop BA Fuchinoue S Seneca S Zeesman S Knerr I Rodés M Wasant P Yoshida I De Meirleir L Abdul Jalil M Begum L Horiuchi M Katunuma N Nakagawa S Saheki T 《Human mutation》2003,22(1):24-34
Classical citrullinemia (CTLN1), a rare autosomal recessive disorder, is caused by mutations of the argininosuccinate synthetase (ASS) gene, localized on chromosome 9q34.1. ASS functions as a rate-limiting enzyme in the urea cycle. Previously, we identified 32 mutations in the ASS gene of CTLN1 patients mainly in Japan and the United States, and to date 34 different mutations have been described in 50 families worldwide. In the present study, we report ASS mutations detected in 35 additional CTLN1 families from 11 countries. By analyzing the entire coding sequence and the intron-exon boundaries of the ASS gene using RT-PCR and/or genomic DNA-PCR, we have identified 16 novel mutations (two different 1-bp deletions, a 67-bp insertion, and 13 missense) and have detected 12 known mutations. Altogether, 50 different mutations (seven deletion, three splice site, one duplication, two nonsense, and 37 missense) in 85 CTLN1 families were identified. On the basis of primary sequence comparisons with the crystal structure of E. coli ASS protein, it may be concluded that any of the 37 missense mutations found at 30 different positions led to structural and functional impairments of the human ASS protein. It has been found that three mutations are particularly frequent: IVS6-2A>G in 23 families (Japan: 20 and Korea: three), G390R in 18 families (Turkey: six, U.S.: five, Spain: three, Israel: one, Austria: one, Canada: one, and Bolivia: one), and R304W in 10 families (Japan: nine and Turkey: one). Most mutations of the ASS gene are "private" and are distributed throughout the gene, except for exons 5 and 12-14. It seems that the clinical course of the patients with truncated mutations or the G390R mutation is early-onset/severe. The phenotype of the patients with certain missense mutations (G362V or W179R) is more late-onset/mild. Eight patients with R86H, A118T, R265H, or K310R mutations were adult/late-onset and four of them showed severe symptoms during pregnancy or postpartum. However, it is still difficult to prove the genotype-phenotype correlation, because many patients were compound heterozygotes (with two different mutations), lived in different environments at the time of diagnosis, and/or had several treatment regimes or various knowledge of the disease. 相似文献
4.
Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients 总被引:5,自引:0,他引:5
Tazawa Y Kobayashi K Abukawa D Nagata I Maisawa S Sumazaki R Iizuka T Hosoda Y Okamoto M Murakami J Kaji S Tabata A Lu YB Sakamoto O Matsui A Kanzaki S Takada G Saheki T Iinuma K Ohura T 《Molecular genetics and metabolism》2004,83(3):213-219
A deficiency of citrin, which is encoded by the SLC25A13 gene, causes both adult-onset type II citrullinemia (CTLN2) and neonatal intrahepatic cholestasis (NICCD). We analyzed 16 patients with NICCD to clarify the clinical features of the disease. Severe intrahepatic cholestasis with fatty liver was the most common symptom, but the accompanying clinical features were variable, namely; suspected cases of neonatal hepatitis or biliary atresia, positive results from newborn screening, tyrosinemia, failure to thrive, hemolytic anemia, bleeding tendencies and ketotic hypoglycemia. Laboratory data showed elevated serum bile acid levels, hypoproteinemia, low levels of vitamin K-dependent coagulation factors, and hypergalactosemia. Hypercitrullinemia was detected in 11 out of 15 patients examined. Most of the patients were given a lactose-free and/or medium chain triglycerides-enriched formula and lipid-soluble vitamins. The prognosis of the 16 patients is going fairy well at present, but we should observe these patients carefully to see if they manifest any symptom of CTLN2 in the future. 相似文献
5.
By using homozygosity mapping and positional cloning, we have shown that adult-onset type II citrullinemia (CTLN2) is caused
by mutations of the SLC25A13 gene, which is localized on chromosome 7q21.3 and encodes a mitochondrial solute carrier protein named citrin. So far, we
have reported nine mutations, most of which cause loss of citrin, and we have established several methods for DNA diagnosis.
These methods have shown that more than 90% of the patients diagnosed as suffering from CTLN2 by enzymatic analysis carry
SLC25A13 mutations in both alleles, indicating that CTLN2 is caused by citrin deficiency. Furthermore, by using the same DNA diagnosis
methods, we discovered that 70 neonates or infants suffering from a particular type of neonatal hepatitis carry the same SLC25A13 mutations. Since the symptoms of the neonates are different from those of the more severe CTLN2 and usually ameliorate without
special treatment, we designated the neonatal disease neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).
We conclude that citrin deficiency causes NICCD in neonates and CTLN2 in adults through the additional effects of genetic
or environmental modifiers. Since the function of citrin, together with that of an isoform, aralar, was found to be as a mitochondrial
aspartate glutamate carrier, the various symptoms of NICCD and CTLN2 may be understood as caused by defective aspartate export
from the mitochondria to the cytosol and defects in the malate aspartate shuttle. It is, however, still difficult to understand
the cause of the hepatic deficiency of argininosuccinate synthetase protein in CTLN2.
Received: March 20, 2002 / Accepted: March 28, 2002 相似文献
6.
Saheki T Kobayashi K Iijima M Horiuchi M Begum L Jalil MA Li MX Lu YB Ushikai M Tabata A Moriyama M Hsiao KJ Yang Y 《Molecular genetics and metabolism》2004,81(Z1):S20-S26
Citrin is a mitochondrial aspartate glutamate carrier primarily expressed in the liver, heart, and kidney. We found that adult-onset type II citrullinemia is caused by mutations in the SLC25A13 gene that encodes for citrin. In this report, we describe the frequency of SLC25A13 mutations, the roles of citrin as a member of the urea cycle and as a member of the malate-aspartate shuttle, the relationship between its functions and symptoms of citrin deficiency, and therapeutic issues. 相似文献
7.
Enhancement of CD3-mediated thymocyte apoptosis by the cross-linkage of heat-stable antigen. 下载免费PDF全文
Heat-stable antigen (HSA) is a murine differentiating antigen that is expressed on both CD4-CD8- double-negative and CD4+CD8+ double-positive thymocytes but not CD4+ or CD8+ single-positive thymocytes. Effects of anti-HSA monoclonal antibody, R13, on thymocyte apoptosis induced by various stimulations were investigated by a single-cell suspension culture system. Immobilized R13 enhanced the CD3-mediated DNA fragmentation and killing of thymocytes but not the dexamethasone-induced or phorbol myristate acetate-induced killing of thymocytes. Immobilized R13 by itself could not induce thymocyte apoptosis. Soluble R13 enhanced CD3-mediated apoptosis when HSA and T-cell receptor (TCR)/CD3 were co-cross-linked by a cross-reactive secondary antibody. Even without the cross-reactive secondary antibody, soluble R13 enhanced CD3-mediated apoptosis, although a greater than 100-fold increase in the amount of R13 was needed to give a similar enhancement compared with immobilized R13. Neither R13 by itself nor R13 plus secondary antibody induced cytosolic calcium influx, whereas R13 enhanced CD3-mediated cytosolic calcium increase. These results suggest a functional role of HSA in promoting the activation-induced apoptosis of thymocytes and the involvement of HSA in negative selection. 相似文献
8.
Madelon Novato Ribeiro Maria Inês Fernandes Pimentel Armando de Oliveira Schubach Raquel de Vasconcellos Carvalh?es de Oliveira José Liporage Teixeira Madson Pedro da Silva Leite Monique Fonseca Ginelza Peres Lima dos Santos Mariza Matos Salgueiro Erica de Camargo Ferreira e Vasconcellos Marcelo Rosandiski Lyra Mauricio Naoto Saheki Claudia Maria Valete-Rosalino 《Revista do Instituto de Medicina Tropical de S?o Paulo》2014,56(4):291-296
The favorable outcome of the treatment of a disease is influenced by the
adherence to therapy. Our objective was to assess factors associated with adherence
to treatment of patients included in a clinical trial of equivalence between the
standard and alternative treatment schemes with meglumine antimoniate (MA) in the
treatment of cutaneous leishmaniasis (CL), in the state of Rio de Janeiro. Between
2008 and 2011, 57 patients with CL were interviewed using a questionnaire to collect
socioeconomic data. The following methods were used for adherence monitoring:
counting of vial surplus, monitoring card, Morisky test and modified Morisky test
(without the question regarding the schedule); we observed 82.1% (vial return), 86.0%
(monitoring card), 66.7% (Morisky test) and 86.0% (modified Morisky test) adherence.
There was a strong correlation between the method of vial counting and the monitoring
card and modified Morisky test. A significant association was observed between
greater adherence to treatment and low dose of MA, as well as with a lower number of
people sleeping in the same room. We recommend the use of the modified Morisky test
to assess adherence to treatment of CL with MA, because it is a simple method and
with a good performance, when compared to other methods. 相似文献
9.
10.