Age-related variations in gene expression patterns of renal cell carcinoma

Background

Clear cell renal cell carcinoma (ccRCC) is known to occur across the adult lifetime traversing the spectrum of age-related organismal changes. Little is known as to how the aging process may affect the course of renal cell carcinoma (RCC) and the repertoire of genes involved.

A novel DDC gene deletion mutation in two Chinese mainland siblings with aromatic l-amino acid decarboxylase deficiency

Background

Aromatic l-amino acid decarboxylase (AADC) deficiency (OMIM #608643) is a rare and severe disorder of biogenic amine synthesis caused by mutations in the DDC gene. The phenomenology of the movement disorder includes intermittent oculogyric crises and limb dystonia, generalized athetosis, and impaired voluntary movement.

表达谱基因芯片筛选体外循环前后心肌细胞因子的变化

Objestive Systemic inflarmmation may be triggered by injury, hypothermia, ischemia-reperfusion and the contact of the blood with foreign body during cardiopulmonary bypass (CPB). To determine the application values of gene chip technique in the clinical practice and the study of cardiovascular stagery, as well as to provide clues to the study of inflammatory responess during CPB, microarry for gene expression profiles was used to identify the differences in the gene expression of myocardium between pre-and post- CPB. Methods Six adult patients who underwent CPB from March to May in 2003 were involved. Samples of right atrium were col- lected before and at immediate end of CPB. BD AtlasTM cDNA Expression Arrays was used to identify the differences in the gene ex- pression of cytokines. The results were compared with that of semi-quantative RT-PCR. Resellts The mean age of 6 patients (5 males and 1 female) was (32.67± 11.72) years. The baseline heart function was gradeⅡin 3 cases and grade Ⅲ in 3 other cases. The baseline left ventricular ejection fraction(LVEF)was (58.17±7.91)%. The mere duration was (91.67±43.88) minutes for CPB and was (58.67±43.46) minutes for aorta blocking. The minimum nasopharynx/rectal temperture was (29.37±1.90)℃/ (32.15±1.52)℃. Gene expression profiles of cytokines in the myocardium pre- and post-CPB were analysed successfully. The ex- pression of IL-6, IFN-γ,Wnt5a, TNFRSF1B, a member of tumor necrosis factor receptor superfamily, PIGF and MFNG in the myo- cardium were unpregulated after CPB. Conclusion Microarray technique is applicable in the study of cytokines changes dying CPB. cDNA microarray identified pleliminarily the differences in the gene expression between pre- and post-CPB. These genes may be in- valved in inflammation and other psthophysiological responses incuced by CPB. The myocardiym is probably one of the major sources of cytokines during CPB. Further study may be helpful in understanding the llngthe development of inflammation during CPB, and eventually, reducing the post-operative complications.     

CYP2E1 and ALDH2 Genotypes and Alcohol Dependence in Japanese

The genotypes of the CYP2E1 and ALDH2 loci of alcoholic (alcohol dependence) and nonalcoholic (healthy) Japanese were investigated to examine the relationship between the polymorphism of CYP2E1 (C₁/C₂) and ALDH2 ( ALDH2*1/ALDH2*2 ), and the susceptibility to alcoholism. There was no significant difference in C₂ gene frequency between alcoholics (0.19) and nonalcoholics (controls) (0.20), whereas there was a significant difference in ALDH2 allele frequency, suggesting that, in Japanese, the C₂ genotype of CYP2E1 may have nothing to do with the risk of developing alcohol dependence. However, the ALDH2*1 allele may influence drinking behavior and the development of alcohol dependence. Furthermore, racial interethnic differences in the frequency of the mutated allele of the CYP2E1 gene (CJ were found, like the ALDH2 gene. Japanese healthy controls showed a significantly higher frequency of the C₂ allele than did Swedish healthy controls (0.05; reported by Persson et al., FEBS Lett. 319:207-211,1993).     

软骨损伤的基因治疗研究进展

由于软骨组织内无血管,因此其损伤后仅靠其自身来修复是非常有限的.有研究表明,很多细胞因子具有促进软骨形成及软骨样组织修复的功能.由细胞介导的相关基因于损伤部位分泌这些细胞因子促进软骨修复被认为足最理想的治疗方法.基因治疗正是在这一基础上发展起来的一种治疗技术,近年来取得了快速的发展.就近期软骨损伤的基因治疗进展进行综述.     

HLA-DPB1 gene polymorphism and multiple sclerosis: a large case-control study in the southwest of France

The polymorphism at the HLA-DPB1 locus has been characterized in a large number of patients with multiple sclerosis (n = 112) and in healthy controls (n = 115). Both patients and controls lived in the southwest of France (in the Pyrénées Atlantiques) and had similar ethnic background. The typing procedure involved the selective amplification of the second exon of the DPB1 locus by polymerase chain reaction, followed by hybridization of the amplified DNA with 14 sequence-specific oligonucleotide probes. Individual alleles were identified by the pattern of hybridization of the different probes. The distribution of the DPB1 alleles was not significantly different in multiple sclerosis patients and controls (p = 0.11). This does not corroborate the reported association of multiple sclerosis with the primed lymphocyte typing (PLT)-defined DPw4 specificity and is not in favour of a role played by polymorphic residues of the DP molecule in susceptibility to multiple sclerosis.     

Study of fingerprint classification and their gender distribution among South Indian population

Identification of an individual plays a vital part of any medicolegal investigation. Fingerprint is considered to be the most accurate and reliable indicator in identification.The present study was conducted on 500 South Indian subjects to determine the individuality and the predominant fingerprint pattern among South Indian population. Two-hundred and fifty males and 250 females of South Indian origin were included for this study and rolled prints were taken from all the 10 digits and the same were stored on a proforma.The most frequent fingerprint pattern was ulnar loop in the total population, as well as in the sex wise distribution.     

Differential Regulation of RGS-2 by Constant and Oscillating PTH Concentrations

PTH has diverse effects on bone metabolism: anabolic when given intermittently, catabolic when given continuously. The cellular mechanisms underlying the varying target cell response are not clear yet. PTH induces RGS-2, a member of the Regulator of G-protein Signaling protein family, via cAMP/PKA, and inactivates PKC-mediated signaling. To investigate intracellular signaling pathways with different PTH concentration-time patterns, we treated UMR 106-01 osteoblast-like cells in a perfusion system. PTH was administered intermittently (4 min/h, 10⁻⁷ M) or continuously at an equivalent cumulative dose (6.6 × 10⁻⁹ M). cAMP was measured using radioimmunoassay, mRNA levels using real-time rtPCR and ribonuclease protection assay, and protein levels using Western immunoblotting. A single PTH pulse transiently increased cAMP levels by 2000% ± 1200%. In contrast to continuous PTH exposure, cAMP induction remained unchanged with intermittent PTH, ruling out desensitization of the PTH receptor. In continuously perfused cells, RGS-2 abundance was three to five times higher than in cells intermittently exposed to PTH for up to 12 h. MKP-1 and -3 were significantly less induced with pulsatile PTH; exposure-mode-dependent differences in MMP-13 and IGFBP-5 were small. Pulsatile but not continuous PTH administration prevents PTHrP receptor desensitization and accumulation of RGS-2 in osteoblasts, which should preserve PKC-dependent signaling.