Monocyte Activation Drives Atrial Fibrillation in Hypertension.
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Atrial fibrillation↗
Biomedical subjects
Jia-Hui Xia
Publications and source records attributed to Jia-Hui Xia.
Morning-to-evening change in home blood pressure as a predictor of fatal and nonfatal cardiovascular events.
OBJECTIVE: We investigated the morning-to-evening changes in home blood pressure (BP) in relation to the risk of fatal and nonfatal cardiovascular events. METHOD: The study participants (≥18 years of age) were outpatients enrolled in the China Nationwide Ambulatory and Home Blood Pressure Registry. Home BP was measured at baseline for 7 consecutive days in the morning and evening five times consecutively, of which the first three readings were averaged for analysis. The morning-to-evening changes in home BP were calculated by subtracting the BP values in the morning from that in the evening. RESULT: During a mean (±SD) follow-up of 4.9 (±2.6) years, 184 cardiovascular events occurred among the 5057 study participants. The mean morning-to-evening change in home SBP/DBP was -2.2 ± 8.1/-2.5 ± 4.5 mmHg. The age and sex-standardized incident rate was highest in quartile 1 of the changes in both SBP and DBP for fatal and nonfatal cardiovascular events, stroke (log-rank test, P  < 0.001). After adjustment for confounding factors, including the mean of morning and evening BP, the hazard ratios for patients in quartile 1 of the morning-to-evening change relative to the overall study participants reached statistical significance for SBP [1.39, 95% confidence interval (95% CI) 1.03-1.88] and DBP (1.59, 95% CI: 1.17-2.15) in relation to fatal and nonfatal stroke, and for diastolic BP in relation to fatal and nonfatal cardiovascular events (1.42, 95% CI: 1.13-1.77). CONCLUSION: In outpatients, a mild to moderate BP drop from morning to evening was associated with a significantly higher risk of all cardiovascular events, especially stroke.
Humans↗
Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease.
Mutations in genes encoding both DJ-1 and pten-induced kinase 1 (PINK1) are independently linked to autosomal recessive early-onset familial forms of Parkinson's disease (PD). We here report identification of a family with PD patients harboring novel heterozygous missense mutations in both PINK1 and DJ-1 genes encoding DJ-1A39S and PINK1P399L, respectively. In transfected cells, DJ-1 interacts with PINK1. PINK1P399L is less stable than the wild-type protein and is degraded via the ubiquitin-mediated proteasomal pathway. Expression of wild-type DJ-1 increased steady-state levels of PINK1, whereas expression of DJ-1A39S reduced steady-state levels of PINK1. Furthermore, co-expression of wild-type DJ-1 and PINK1 suppresses neurotoxin 1-methyl-4-phenylpyridinium (MPP(+))-induced death of dopaminergic SH-SY5Y cells. In contrast, co-expression of PD-associated DJ-1A39S and PINK1P399L significantly potentiated susceptibility of SH-SY5Y cells to MPP(+)-induced cell death. This study reports the first case of autosomal recessive PD with digenic inheritance and demonstrates that DJ-1 and PINK1 physically associate and collaborate to protect cells against stress via complex formation.
Adult↗
Identify female carriers and de novo mutations in deletional Duchenne/Becker muscular dystrophy families.
By using multiple polymerase reaction (mPCR) and haploid analysis of 11 short tandem repeats (STRs) in dystrophin gene locus to identify female carriers in deletional DMD/BMD (Duchenne/Becker Muscular Dystrophy) families, valuable information can be gathered for prenatal diagnosis. In this article, de novo mutations were detected in two out of the four patients, and one of the four female members was identified as an obligate DMD gene carrier based on the haplotype analysis. Multiple PCR and STRs haploid linkage analysis are rapid, accurate, objective methods to identify female member status, and well suited for routine use in clinical laboratories engaged in DMD/BMD research for counseling, gene diagnosis and prenatal diagnosis. During mPCR analysis, the amplicon of exon 45 showed different electrophoresis mobility in different kinds of gels. Polyacrylamide Gels Electrophoresis (PAGE) was accurate and rapid for analyzing the products of mPCR, but the mobility of different amplicons need to be considered in data analysis.
Adolescent↗
[IT15 gene analysis in two pedigrees of Huntington's disease].
To investigate the relationship between the clinical features and (CAG)n trinucleotide repeats in two pedigrees of Chinese Huntington's disease (HD). Clinical and neuroimaging features, the age of disease onset and pattern of transmission of the patients were studied in the two pedigrees of HD. Genomic DNA of 42 family members was used for amplification of the (CAG)n repeats of IT15 gene by PCR. The numbers of (CAG)n were determined by electrophoresis through a 6% polyacrylamide gel and direct sequence analysis. Results showed that patients in pedigree 1 were absent of the typical triad of HD symptoms or caudate atrophy. A total of 9 (5 patients and 4 asymptomatic) out of 18 family members had 40-50 (CAG)n repeats in the IT15 gene. In pedigree 2, all the patients were characterized by a triad of symptoms, including motor disturbance, cognitive impairment and psychiatric features. Three patients and two asymptomatic relatives had more than 50 (CAG)n repeats in the IT15 gene. In conclusion, the clinical symptoms are partly determined by (CAG)n repeats in the IT15 gene. The age of onset was correlated with (CAG)n repeats over 50, and the phenomenon called "anticipation" was found to have played a role.
Adolescent↗
Identification of the alternative promoters of the KChIP4 subfamily.
The subfamily of voltage-dependent potassium (Kv) channel interacting protein 4 (KChIP4) is made up of the auxiliary interacting protein of voltage-dependent potassium channels. In this study, the structure of four splicing variants of the human KChIP4 gene was analyzed. Three of the four isoforms of the KChIP4 gene, KChIP4.1, KChIP4.2 and KChIP4.4, were amplified from mouse and human fetal brain tissues by reverse transcription-polymerase chain reaction and then identified. Based on the bioinformatics analysis of the genomic sequences of the gene, we cloned and characterized two promoter fragments from the KChIP4 gene. One was a 325 bp fragment upstream of the 5' end of the KChIP4.1 mRNA sequence and the other was an 818 bp fragment located immediately at the 5' end of the KChIP4.4 variant. Both of them can initiate the transcription of the reporter gene in HT1080 cells and Sprague-Dawley (SD) rat fetal brain neurons, and they contain CG islands, except typical TATA boxes and CAAT boxes. This shows that the KChIP4 gene expression is regulated by an alternative promoter.
Amino Acid Sequence↗
Intracellular distribution, assembly and effect of disease-associated connexin 31 mutants in HeLa cells.
Mutations in connexin 31 (Cx31) are associated with erythrokeratodermia variabilis (EKV), hearing impairment and peripheral neuropathy; however, the pathological mechanism of Cx31 mutants remains unknown. This study analyzed 11 disease-associated Cx31 variants and one non-disease-associated Cx31 variant and compared their intracellular distribution and assembly in HeLa cells and their effect on these cells. The fluorescent localization assay showed no gap junction plaque formation in the cells expressing the recessive EKV-associated mutant (L34P) and four hearing impairment-associated mutants (66delD, 141delI, R180X and E183K), significantly reduced plaque formation in the cells with five EKV-associated dominant mutants (G12R, G12D, R42P, C86S and F137L) and no obvious change in the cells with two other mutants (I141V and 652del12). Immunoblotting analysis showed that 12 mutated Cx31s, like WT-Cx31, are able to form the Triton X-100 insoluble complex; however, the quantity of Triton X-100 insoluble complex in the transfected HeLa cells varied among different Cx31 mutants. Additionally, the expression of five EKV-associated dominant mutants (G12R, G12D, R42P, C86S and F137L) caused cell death in HeLa cells. However, the five hearing impairment-associated mutants did not induce cell death. The above results suggest that disease-associated mutants gain deleterious functions differentially. In summary, disease-associated Cx31 mutants impair the formation of normal gap junctions at different levels, and the diseases associated with Cx31 mutations may result from the abnormal assembly, trafficking and metabolism of the Cx31 mutants.
Apoptosis↗
[Phenotype positioning on chromosomes in a patient with the syndrome of partial trisomy 7p21.2-->pter].
By using the techniques of human chromosome G-banding, high resolution banding and fluorescence in situ hybridization (FISH), we investigated a patient with the karyotype of partial trisomy 7p21.2-->pter. Combining with the comparative review of the clinical data in 14 cases with partial trisomy 7p syndrome from reported literatures,we searched for the correlation between the karyotype and the phenotype and between the karyotype and the associated gene in the patients with partial trisomy 7p syndrome. The results indicated that the 7p21.2-->p22 is the critical segment of partial trisomy 7p syndrome. The phenotypes of the genital malformation and the dislocation of hip joint are associated with the duplication of 7p15. The cardiac anomalies is resulted from the dysfunctions of several genes on the long arm of chromosome 7. The gene associated with the craniosynostosis may locate on the region of 7p21.2-->p21.3.
Abnormalities, Multiple↗
[Stable suppression of beta-catenin expression in prostate cancer cell line by retrovirus mediated RNAi].
OBJECTIVE: To set up a prostate cancer cell line in which beta-catenin expression is stably suppressed and to investigate the role of Wnt/beta-catenin signaling pathway in prostate tumorgenesis. METHODS: We select 3 sites in the complete coden sequence region of beta-catenin gene as the RNAi targets, ligated the annealed double pre-DNA strands into the retroviral vectors pSUPER-retro and transfected them into the packaging cells PA317, and then collected supernatant with retrovirus to infect DU145. After selection by puromycin and culture expansion, the stable cell clones were attained. Expression of the 2 target genes of Wnt/beta-catenin signaling pathway cyclinD1 and c-myc, was detected in the beta-catenin RNAi cells by Western blot. The effect of suppressing beta-catenin by RNAi on cell proliferation was quantified by methylthiazoletetrazolium (MTT) assay. RESULTS: Western blotting and RT-PCR showed that the expression level of beta-catenin in the 2 stable cell clones apparently decreased. CyclinD1 and c-myc expression decreased in the beta-catenin RNAi cells. MTT showed that the cell number of beta-catenin expression suppression cell clones decreased significantly (P < 0. 05), suggesting the cell proliferation was prevented. CONCLUSION: The beta-catenin gene stable suppression cell line was successfully established.
Cell Line, Tumor↗
[Genetic linkage analysis in localizing a gene of autosomal dominant familial dilated cardiomyopathy with conduction defect].
OBJECTIVE: To localize the gene of autosomal dominant familial dilated cardiomyopathy with conduction defect. METHODS: A Chinese family which was diagnosed as dilated cardiomyopathy with conduction defect was studied. Venous blood (3 - 5 mL) from some family members was collected, and genomic DNA was extracted from the blood. Then whole genome wide scan was performed after excluding the known markers on the candidate loci (CMD1A, CMD1 E, CMD1F, and CMD1H) by two-point linkage analysis. RESULTS: No significant evidence for linkage was found in the two point linkage analyses to the known markers in the analyzed family. And the whole genome wide scan showed the maximum LOD score reached 2.68 at marker D3S1614 ( at recombination fraction theta = 0). CONCLUSION: The related gene in this kindred is located on 3q26 other than on CMD1A, CMD1H, CMD1E, and CMD1F.
Adult↗
[Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family].
OBJECTIVE: To identify the gene causing diffuse palmoplantar keratoderma in a Chinese pedigree. METHODS: Four normal individuals and 3 patients in a diffuse palmoplantar keratoderma family and 10 unrelated control samples were recruited. The hotspot of the mutations of keratin 9 gene was analyzed by polymerase chain reaction and direct sequencing. RESULTS: We found a G485A transition in ke ratin 9 gene, resulting in the substitution of glutamine for arginine at codon 162 in this diffuse palmoplantar keratoderma family. The mutation was not found in the 10 unrelated control samples and 4 normal individuals. CONCLUSION: The mutation G485A found in keratin 9 gene is the disease-causing mutation in the diffuse palmoplantar keratoderma family.
Base Sequence↗
A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24.
Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders with a prevalence estimated at 1/2500. The axonal form of this disorder is referred to as Charcot-Marie-Tooth type 2 disease (CMT2). Recently, a large Chinese family with CMT2 was found in the Hunan and Hubei provinces of China. The known loci for CMT1A, CMT2D, CMT1B (the same locus is also responsible for CMT2I and CMT2J), CMT2A, CMT2E, and CMT2F were excluded in this family by linkage analysis. A genome-wide screening was then carried out, and the results revealed linkage of CMT2 to a locus at chromosome 12q24. Haplotype construction and analyses localized this novel locus to a 6.8-cM interval between microsatellite markers D12S366 and D12S1611. The maximal two-point LOD score of 6.35 and multipoint LOD score of 8.08 for marker D12S76 at a recombination fraction (theta) of 0 strongly supported linkage to this locus. Thus, CMT2 neuropathy in this family represents a novel genetic entity that we have designated as CMT2L.
Adolescent↗
[A novel oligonucleotide arrays-based multiplex amplifiable probe hybridization technology].
Multiplex amplifiable probe hybridization (MAPH) has recently been developed to detect gene copy number changes in total genome in several genetic disease. Here we reported a novel oligonucleotide arrays-based multiplex amplifiable probe hybridization technology for DNA fragment copy number measurement. A set of amplifiable probes were prepared by locus-specific forward and reverse primers synthesized with the T7 and T3 promoter sites at their respective 5'-ends to the interest DNA fragments and purified by Qiagen PCR products purification kit. The set of probes were then hybridized with genome DNA immobilized on the nylon membrane. The selective probes after MAPH were collected with streptavidin coated magnetic beads and amplified by a biotin labeled universal primers. The biotinylated PCR products were then intended for hybridization to the corresponding oligonucleotide arrays consisted of 10 exons of DMD gene probes and positive,negative control probes immobilized on glass slides. After hybridization, the slides were washed by hybridization buffer and stained by streptavidin-Cy3. The hybridization fluorescence images were scanned by the ScanArray software and further quantitatively analyzed by the ImageJ software. Here we used oligonucleotide array technology to replace the agarose gel analysis for detecting the biotinylated PCR products so that extendable ability of parallel assay in our method had greatly been improved. One control female, one control male and one DMD patient were tested in this study. The results demonstrate the feasibility of high-throughput detection and relative quantification of DNA fragment copy numbers changes in total genome DNA combination of MAPH and high-density oligonucleotide arrays in single reaction.
Gene Dosage↗
[Mapping of a pedigree with congenital nystagmus].
To investigate the relationship between X chromosome and obligatory gene of a pedigree with congenital nystagmus,we used the following markers: DXS1214, DXS1068, DXS993, DXS8035, DXS1047, DXS8033, DXS1192 and DXS1232. Genome screening and genotyping were conducted in this pedigree of congenital nystagmus, and linkage analysis by LINKAGE package was used to determine the potential location. The linkage was not found on the Xp (All LOD score <-1) but on Xq (the maximum LOD score=2). The related gene of this pedigree was located on the long arm of X chromosome. We demonstrate that Xq26-Xq28 is a common locus for CMN. It bring us closer to the identification of a gene responsible for X-linked CMN.
Chromosome Mapping↗
[Interaction of connexin 26 with the C-terminal of neuroendocrine specific protein].
OBJECTIVE: To screen and identify the interactive proteins with connexin 26 (Cx26) by the yeast two hybrid technique. METHODS: The whole coding region of Cx26 (GJB2) gene was amplified from normal human genomic DNA by polymerase chain reaction (PCR). The "bait" Cx26 was then subcloned into the vector pGBKT7 plasmid of the MatchMaker Gal4 Two-Hybrid System 3 as a target to screen its interactive proteins ("prey") from the human fetal brain eDNA library by the yeast two hybrid technique. The false positive clones were discarded from the preys by one to one yeast two hybrid method between Cx26 and the preys. The DNAs of the preys were sequenced and BLAST analyzed against the GenBank, and also underwent other bioinformatics analysis. RESULTS: The insert of one positive clone contained 145 amino acids residues that was identical to the C-terminal of the neuroendocrine specific protein (NSP) and the open reading frame of the insert was correct. CONCLUSION: Cx26 is interacted with the C-terminal of NSP. NSP may participate in the process of Cx26 transportation, assembling the connexon, or influencing the functions of its connexons.
Alcohol Oxidoreductases↗
In vitro chondrogenesis of human bone marrow-derived mesenchymal progenitor cells in monolayer culture: activation by transfection with TGF-beta2.
Bone marrow-derived mesenchymal progenitor cells are capable of chondrogenesis, making them a possible source of cells for cartilage tissue engineering. Because of this, we studied the effect of human transforming growth factor beta2 (TGF-beta2) on mesenchymal progenitor cell chondrogenesis in monolayer culture using gene transfection technology. A recombinant pcDNA3.1(+)/TGF-beta2 construct containing a full-length TGF-beta2 from a human placental cDNA library was created through gene cloning and DNA recombination. The construct was then lipofected into mesenchymal progenitor cells isolated from human bone marrow. RT-PCR, Western blotting, and immunohistochemistry analyses were performed to identify the expression of TGF-beta2 and cartilage-associated genes and proteins. The results showed that TGF-beta2 was expressed throughout the culture period. The transfected progenitor cells expressed and produced collagen type II and aggrecan 48 h after transfection, and the expression and synthesis were upregulated after 4 weeks. In contrast, the tested genes and proteins were not detected in non-transfected cells. This shows that transfection of pcDNA3.1(+)/TGF-beta2 into mesenchymal progenitor cells is able to provide transient and persistent expression of cartilage-specific genes and proteins, and suggests that the differentiation of human marrow-derived mesenchymal progenitor cells into chondrocytes in monolayer culture is feasible and may be induced by TGF-beta2.
Aggrecans↗
[In silicon cloning of the human TECTB gene].
The coding sequence of the mouse Tectb and chick Tectb gene were subjected to Blastn searching against the human dbEST and Htgs in NCBI. One BAC clone sequence(GenBank: AL157786) was obtained, which shows high homology to the two genes. We predicted the exons and introns in the homologous region of AL157786 using GENSCAN, MZEF and Blast 2 sequence program, and then assembled the predicted exons into the coding sequence of the human TECTB. The open reading frame of human TECTB gene is 990 bp composed of ten exons, which encodes a protein of 329 amino acids. Human TECTB gene shows 88.1% identity in 990 bp overlap with that of the mouse Tectb gene and the predicted polypeptide shows 94.2% identity in 329 as with the mouse beta-tectorin. The TECTB gene was mapped to human chromosome 10q25 by electronic-PCR.
Amino Acid Sequence↗
[Silica nanoparticles modified as carriers for gene transfection].
The silica nanoparticles are modified by sodium iodine or sodium chloride with different concentration. Their ability to bind and protect plasmid DNA was demonstrated by agarose gel electrophoresis. The EGFP-N1 plasmid was transfected into HT1080 by combing silica nanoparticle. Eletromicroscope examine revealed that nanoparticle-DNA could enter into cells, these silica nanoparticles protect DNA against nuclease digestion and the GFP has an effective expression. In conclusion, these nanoparticles might be used as DNA carriers for gene transfection.
Animals↗