ABSTRACT
Congenital cataract is a highly heterogeneous disorder at both the genetic and the clinical-phenotypic levels. A unique cataract was observed in a 4-generation Chinese family, which was characterized by autosomal dominant inheritance and late-onset. Mutations in the 13 known genes (CRYAA, CRYAB, CRYBB1, CRYBB2, CRYGC, CRYBA1/A3, CRYGD, Connexin50, Connexin46, intrinsic membrane protein LIM2, cytoskeletal protein BFSP2, the major intrinsic protein-MIP and the heat shock factor HSF4) have previously been demonstrated to be the frequent reason for isolated congenital cataracts, but the exact molecular basis and underlying mechanisms of congenital cataract still remain unclear. This study was designed to find whether these 13 genes developed any mutation in the family members and to identify the disease-causing gene. Polymerase chain reaction (PCR) and direct DNA sequence analysis were carried out to detect the 13 genes. The results showed that no mutation causing amino acid alternations was found in these potential candidate genes among all patients in the family, and only several single-nucleotide polymorphisms (SNPs) were identified. A transitional mutation in the fourth intron of CRYBB2 and some silent mutations in the first exon of BFSP2 and CRYGD were found in the cataract family, but further study showed that these mutations could also be found in normal controls. It was concluded that some unidentified genes may underlie the occurrence of late-onset cataract in this family. A genome-wide screening will be carried out in the next study.
Subject(s)
Adult , Female , Humans , Male , Middle Aged , Cataract , Genetics , China , DNA Mutational Analysis , Genes, Dominant , PedigreeABSTRACT
Congenital cataract is a highly heterogeneous disorder at both the genetic and the clinical-phenotypic levels. A unique cataract was observed in a 4-generation Chinese family, which was characterized by autosomal dominant inheritance and late-onset. Mutations in the 13 known genes (CRYAA, CRYAB, CRYBB1, CRYBB2, CRYGC, CRYBA1/A3, CRYGD, Connexin50, Connexin46, intrinsic membrane protein LIM2, cytoskeletal protein BFSP2, the major intrinsic protein-MIP and the heat shock factor HSF4) have previously been demonstrated to be the frequent reason for isolated congenital cataracts, but the exact molecular basis and underlying mechanisms of congenital cataract still remain unclear. This study was designed to find whether these 13 genes developed any mutation in the family members and to identify the disease-causing gene. Polymerase chain reaction (PCR) and direct DNA sequence analysis were carried out to detect the 13 genes. The results showed that no mutation causing amino acid alternations was found in these potential candidate genes among all patients in the family, and only several single-nucleotide polymorphisms (SNPs) were identified. A transitional mutation in the fourth intron of CRYBB2 and some silent mutations in the first exon of BFSP2 and CRYGD were found in the cataract family, but further study showed that these mutations could also be found in normal controls. It was concluded that some unidentified genes may underlie the occurrence of late-onset cataract in this family. A genome-wide screening will be carried out in the next study.
ABSTRACT
Objective To explore the effect of dietary intervention on treatment effect and life quality of young patients with hepatitis B. Methods 106 cases of hepatitis B patients were randomly divided into the intervention group and the control group, each group with 53 cases. The patients in the control group were given medication treatment and conventional diet, while the intervention group was given medication treatment plus dietary intervention. The therapeutic effect and quality of life were evaluated between the two groups 30 days after the intervention. Results 29 cases in the intervention group were cured (54.72%),while only 16 cases in the control group (30.19%) were cured. The total score of life quality in the intervention group was (69.72 ± 8.42), and (55.71 ± 8.31) in the control group. Significant difference existed in subsequent dimensionality: emotional role, bodily function,bodily pain, vitality, social function, mental health and general health between the two groups. Conclusions Clinical efficacy can be improved and quality of life can be enhanced through dietary intervention in patients with hepatitis B.
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Objective To investigate the change of biological features of macrophages after transfected by Toxoplasma gondii GRA 1 genes (P24). Methods The transfected cells Cyto P24 RAW264.7, Nuc P24 RAW264.7, Mito P24 RAW264.7 and ER P24 RAW264.7 were studied by RT PCR to determine the P24 mRNA expression. Growth features of the cells were examined with microscopy and the cell growth curve was developed. Results In four cell lines, expression of ER P24 RAW 264.7 was found to be higher than the other three, and there was no P24 mRNA expression in either of the cells without P24 insert. The attachment and the proliferation of ER-P24-RAW264.7 were more rapid than normal RAW264.7. Conclusion Transfection of mouse macrophages ER RAW264.7 strain with T. gondii P24 gene leads to a prominent change of biological features in the studied cell line.
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Objective To investigate the signaling role of arachidonic acid in the invasion of RAW264.7 macrophage by Toxoplasma gondii . Methods Rate of infection was calculated by both light microscope and flow cytometer. Fluorescent emission spectra were recorded using a microspectrofluometer for the concentration of cytoplasmic free calcium. Results Calcium concentration in macrophages and rate of infection increased with a higher concentration of exogenous arachidonic acid in a dose-dependent manner. The invasion was dependent on the mobilization of calcium from the extracellular medium and from intracellular stores and followed the influx of calcium into the parasitized cell. Conclusion Arachidonic acid may enhance the rate of infection via calcium transduction pathway.
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Objective To explore prostaglandin E 2 (PGE 2) production pathway in Toxoplasma gondii-infected macrophage RAW264.7 cell line.Methods Cells were incubated with Toxoplasma gondii tachyzoites and lipopolysaccharides (LPS). Prostaglandin synthesis and arachidonic acid in supernants were detected with ELISA and gas chromatogram. Expression of cyclooxygenase-1/cyclooxygenase-2 (COX-1/COX-2) mRNA and protein following stimulation with LPS or infection of Toxoplasma gondii were evaluated with RT-PCR and Western blot in presence or absence of peculiar antagonists of PGE 2 production. Results PGE 2 synthesis of macrophages began at 4-8 h after invasion with Toxoplasma gondii and saturated at 12-16 h. Expression of COX-2 mRNA peaked at 4-8 h, and diminished in presence of both indomethacin and nimesulide, COX-2 protein expression was not affected by them. Expression of COX-1 mRNA and protein were constant and not affected by either indomethacin or nimesulide. Conclusion Toxoplasma gondii may induce macrophages prostaglandin E 2 synthesis via cyclooxygenase-2 pathway.
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Objective To investigate the signal transduction pathway of arachidonic acid(AA) and prostaglandin E-2(PGE-2) synthesis in macrophage invaded by Toxoplasma gondii. Methods Synthesis of AA and PGE-2, expression of COX_2 mRNA and protein following stimulation infection by Toxoplasma gondii were evaluated in RAW264