共查询到20条相似文献,搜索用时 0 毫秒
1.
O. G. Sideleva T. I. Ivashchenko A. V. Orlov T. E. Gembitskaya M. A. Petrova M. V. Aseev V. S. Baranov 《Journal of Evolutionary Biochemistry and Physiology》2002,38(3):285-290
The ratio between polymorphous variants of two glutathione S-transferase (M1 and T1) genes (GSTM1 and GSTT1) was studied in healthy people and patients with bronchial asthma (BA) from northwestern Russia. The relative risk of development of BA amounted to 8.5 (C1 95%: 3.623–10.956) in people with GSTM1 0/0,GSTT1 0/0 genotype. No statistically significant differences in distribution of GSTM1 and GSTT1 genotypes were revealed between male and female patients with BA as was among patients with different severity of the disease. Frequency of homozygous GSTM1 0/0 and GSTT1 0/0 differed between patients with the beginning of the disease at the age before and after 30 years. The relative risk of BA development with GSTM1 0/0, GSTT1 0/0 genotype was increased 9.6 times (CI 95%: 3.90–23.85) in patients younger than 30 years, while 3.6 times (CI 95%: 2.15–5.98), in patients older than 30 years. 相似文献
2.
Mutations of Sodium Channel α-Subunit Genes in Chinese Patients with Normokalemic Periodic Paralysis
Xiuhai G Weiping W Ke Z Hongbin W Yiling S MaoYanling 《Cellular and molecular neurobiology》2008,28(5):653-661
OBJECTIVE: In this study, we aim to investigate the clinical features and Mutations of sodium channel alpha-subunit (SCN4A) genes in Chinese patients with normokalemic periodic paralysis (normoKPP). METHODS: Six unrelated Chinese families with normoKPP were analyzed in clinical features. Genomic DNA was extracted from peripheral blood leukocytes and amplified with PCR. We screened all 24 exons of SCN4A gene with denaturing high performance liquid chromatography (DHPLC) technology, and then sequence analysis was performed in those who showed heteroduplex as compared with unaffected controls. RESULTS: The laboratory tests were within normal ranges. Electromyograms and electrocardiograms were normal. One muscle biopsy was performed with the patient in family 4 after a brief attack of normoKPP. Examination of light microscopy showed no changes, but electronic microscopy showed occasionally degenerating myofibers. The mutations of SCN4A genes were as follows: (1) Met1592Val occurred in family 1. (2) Val-781-Ile occurred with the patient and her father in family 4. (3) Both the patients had a novel mutation g2101a predicting the amino acid exchange Arg675Gln in family 5, which may be a disease-causing mutation. CONCLUSIONS: In addition to Val-781-Ile and Met1592Val, the mutation g2101a (Arg675Gln) may be the novel mutation of SCN4A genes in Chinese patients with normoKPP. 相似文献
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Hirschsprung’s disease (HSCR) is the most common identifiable developmental disorder of the enteric nervous system. The present
study was designed to analyze the differential proteomic patterns in stenotic colon segment tissues from patients with HSCR.
We analyzed 20 paired stenotic and normal colon segment tissues from patients with HSCR, and identified 13 proteins from stenotic
segment tissues peptide fingerprint mapping and SELDI MS that were separated using 2-DE. The protein levels of four selected
proteins (α-actinin-4, ACTN4; myosin regulatory light chain interacting protein, MYLIP; fatty acid binding protein 7, FABP7;
bone morphogenetic protein receptor type 1A, BMPR1A) were further validated by Western blot analysis. This study, investigating
for the first time proteomic changes in stenotic colon segment tissues from patients with HSCR, provides potential markers
or promising new candidate actors for the pathogenesis of HSCR. 相似文献
4.
Cheong JY Cho SW Chung SG Lee JA Yeo M Wang HJ Lee JE Hahm KB Kim JH 《Biochemical genetics》2006,44(5-6):246-255
The natural history of hepatitis B virus (HBV) infection is probably related to host immune factors. Interferon-γ (IFN-γ) plays significant roles in immune defense. This study was undertaken to investigate the association between HBV infection and single nucleotide polymorphisms (SNPs) of IFN-γ, IFN-γ receptor (IFNGR)-1 and 2, and interferon regulatory factor (IRF)-1 genes. Between March 2002 and December 2002, 614 Korean patients were enrolled in two different groups: an HBV clearance group (n = 201), who were hepatitis B surface antigen (HBsAg) negative with antibodies to HBsAg and hepatitis B core antigen, and an HBV persistence group (n = 413), who were repeatedly HBsAg positive. We assessed polymorphisms in the IFN-γ gene at position +874, in the IFNGR-1 gene at positions −56 and +95, in the IFNGR-2 gene at the second position of codon 64 (Gln64Arg), and in the IRF-1 gene promoter (−410, −388), and the genotype distributions of the HBV clearance and persistence groups were compared. On the basis of unconditional logistic regression analysis with adjustment for age and sex, no statistically significant association with susceptibility to persistent HBV infection was observed with the IFN-γ, IFNGR-1 and 2, and IRF-1 gene polymorphisms under the codominant, dominant, and recessive models. 相似文献
5.
Milan Dastych Dagmar Procházková Antonin Pokorný Libor Zdražil 《Biological trace element research》2010,133(3):265-269
The purpose of this study was to determine the different levels of copper and zinc in the serum, urine, and scalp hair of
patients with Wilson’s disease receiving different, currently accepted methods of treatment to reduce the copper load (penicillamine—group
1, n = 8; zinc—group 2, n = 8; penicillamine+zinc—group 3, n = 8). Blood, urine, and hair samples were collected from the patients. All three treatments resulted in a significant decrease
of the serum copper levels. Significantly increased levels of zinc in the serum were detected in the patients in groups 2
and 3 (19.1 and 18.8 μmol/l, respectively; p < 0.05). Copper excretion in the urine significantly increased during its administration to groups 1 and 3 (11.5 and 7.94 μmol/24 h
respectively; p < 0.001) due to the effect of penicillamine. The administration of zinc as monotherapy (group 2) or in combination with penicillamine
(group 3) led to an increase of its excretion (25.3 and 22.4 μmol/24 h, respectively; p < 0.01). Only an insignificant rise of the copper content in the hair was found in all three groups of patients. The content
of zinc in the hair did not differ significantly in any of the groups in comparison with the control group. 相似文献
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Maja Pu?i? Ana Kne?evi? Jana Vidi? Barbara Adamczyk Mislav Novokmet Ozren Pola?ek Olga Gornik Sandra ?upraha-Goreta Mark R. Wormald Irma Red?i? Harry Campbell Alan Wright Nicholas D. Hastie James F. Wilson Igor Rudan Manfred Wuhrer Pauline M. Rudd Djuro Josi? Gordan Lauc 《Molecular & cellular proteomics : MCP》2011,10(10)
8.
Maria I. Fonseca Shuhui Chu Aimee L. Pierce William D. Brubaker Richard E. Hauhart Diego Mastroeni Elizabeth V. Clarke Joseph Rogers John P. Atkinson Andrea J. Tenner 《PloS one》2016,11(2)
Chronic activation of the complement system and induced inflammation are associated with neuropathology in Alzheimer’s disease (AD). Recent large genome wide association studies (GWAS) have identified single nucleotide polymorphisms (SNPs) in the C3b/C4b receptor (CR1 or CD35) that are associated with late onset AD. Here, anti-CR1 antibodies (Abs) directed against different epitopes of the receptor, were used to localize CR1 in brain, and relative binding affinities of the CR1 ligands, C1q and C3b, were assessed by ELISA. Most Abs tested stained red blood cells in blood vessels but showed no staining in brain parenchyma. However, two monoclonal anti-CR1 Abs labeled astrocytes in all of the cases tested, and this reactivity was preabsorbed by purified recombinant human CR1. Human brain-derived astrocyte cultures were also reactive with both mAbs. The amount of astrocyte staining varied among the samples, but no consistent difference was conferred by diagnosis or the GWAS-identified SNPs rs4844609 or rs6656401. Plasma levels of soluble CR1 did not correlate with diagnosis but a slight increase was observed with rs4844609 and rs6656401 SNP. There was also a modest but statistically significant increase in relative binding activity of C1q to CR1 with the rs4844609 SNP compared to CR1 without the SNP, and of C3b to CR1 in the CR1 genotypes containing the rs6656401 SNP (also associated with the larger isoform of CR1) regardless of clinical diagnosis. These results suggest that it is unlikely that astrocyte CR1 expression levels or C1q or C3b binding activity are the cause of the GWAS identified association of CR1 variants with AD. Further careful functional studies are needed to determine if the variant-dictated number of CR1 expressed on red blood cells contributes to the role of this receptor in the progression of AD, or if another mechanism is involved. 相似文献
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Zhe Long Zhao Chen Chunrong Wang Fengzhen Huang Huirong Peng Xuan Hou Dongxue Ding Wei Ye Junling Wang Qian Pan Jiada Li Kun Xia Beisha Tang Tetsuo Ashizawa Hong Jiang 《PloS one》2015,10(2)
Spinocerebellar ataxia type 3 (SCA3), or Machado—Joseph disease (MJD), is an autosomal dominantly-inherited disease that produces progressive problems with movement. It is caused by the expansion of an area of CAG repeats in a coding region of ATXN3. The number of repeats is inversely associated with age at disease onset (AO) and is significantly associated with disease severity; however, the degree of CAG expansion only explains 50 to 70% of variance in AO. We tested two SNPs, rs709930 and rs910369, in the 3’ UTR of ATXN3 gene for association with SCA3/MJD risk and with SCA3/MJD AO in an independent cohort of 170 patients with SCA3/MJD and 200 healthy controls from mainland China. rs709930 genotype frequencies were statistically significantly different between patients and controls (p = 0.001, α = 0.05). SCA3/MJD patients carrying the rs709930 A allele and rs910369 T allele experienced an earlier onset, with a decrease in AO of approximately 2 to 4 years. The two novel SNPs found in this study might be genetic modifiers for AO in SCA3/MJD. 相似文献
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Viktorova T. V. Koritina G. F. Makarova O. V. Yanbaeva D. G. Yakupova E. V. Khusnutdinova E. K. 《Russian Journal of Genetics》2003,39(6):712-714
Restriction fragment-length polymorphism of the gene coding for N-acetyltransferase 2 (NAT2) was typed in populations of the Volga–Ural region (Bashkirs, Tatars, Chuvashes, Udmurts, and Russians) as well as in patients with chronic obstructive pulmonary disease (COPD) and in healthy individuals. Rapid and slow acetylator phenotypes were determined based on the presence or absence of the KpnI, TaqI, and BamHI restriction endonuclease recognition sites. The proportion of slow acetylators in the populations examined varied from 40.00% in Bashkirs to 64.15% in Chuvashes with statistically significant difference between these two ethnic groups (2 = 5.7; P = 0.02). Overall, in the Volga–Ural populations slow acetylators represented 56.25% of the subjects examined. This value was similar to those presented in other studies of Caucasoid populations. In the COPD patients a statistically significant decrease of the slow acetylator frequency to 48.28% compared to healthy individuals (62.18%) was observed (2 = 4.60; P = 0.036). The data obtained suggest a possible association between the drug resistance in the COPD patients with the rapid acetylator phenotype, which can lead to the development of the chronic form of the disease. 相似文献
13.
Jun Yang Shengyu Duan Rong Zhong Jieyun Yin Jiarui Pu Juntao Ke Xuzai Lu Li Zou Hongmei Zhang Zhidong Zhu Depeng Wang Huasheng Xiao Anyuan Guo Jiahong Xia Xiaoping Miao Shaotao Tang Guobin Wang 《Molecular neurobiology》2013,47(3):957-966
Hirschsprung’s disease (HSCR) is a complex developmental defect characterized by the absence of enteric ganglia in the gastrointestinal tract. Although the genetic defect of enteric nervous system (ENS) was identified to play a critical role in the progress of HSCR, the systemic genetic dissection of HSCR still needs to be clarified. In this study, we firstly performed exome sequencing of two HSCR patients from a Han Chinese family, including the affected mother and son. After the initial quality filtering (coverage?≥?5X and SNP quality score?≥?40) of the raw data, we identified 13,948 and 13,856 single nucleotide variants (SNVs), respectively. We subsequently compared the SNVs against public databases (dbSNP130, HapMap, and 1000 Genome Project) and obtained a total of 15 novel nonsynonymous SNVs in 15 genes, which were shared between these two patients. Follow-up Sanger sequencing and bioinformatics analysis highlighted variant c.853G>A (p.E285K) in NRG3, a gene involved in the development of ENS. In the validation phase, we sequenced all nine exons of NRG3 in 96 additional sporadic HSCR cases and 110 healthy individuals and identified another nonsynonymous variant c.1329G>A (p.M443I) and two synonymous variants c.828G>A (p.T276T) and c.1365T>A (p.P455P) only in the cases. Our results indicated that NRG3 may be a susceptibility gene for HSCR in a Chinese population. 相似文献
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Pablo Pinto Claudio Salgado Ney Pereira Carneiro Santos Sidney Santos ?ndrea Ribeiro-dos-Santos 《PLoS neglected tropical diseases》2015,9(9)
BackgroundLeprosy is an insidious infectious disease caused by the obligate intracellular bacteria Mycobacterium leprae, and host genetic factors can modulate the immune response and generate distinct categories of leprosy susceptibility that are also influenced by genetic ancestry.Conclusions/Significance
NFKβ1 [rs28362491], CASP8 [rs3834129], PAR1 [rs11267092] and IL4 [rs79071878] genes are potential markers for susceptibility to leprosy development, while the INDELs in NFKβ1, CASP8, PAR1 and CYP19A1 (rs11575899) are potential markers for the severe clinical form MB. Moreover, all of these markers are influenced by genetic ancestry, and European contribution increases the risk to leprosy development, in other hand an increase in African contribution generates protection against leprosy. 相似文献
17.
Leslie Crews Brian Spencer Paula Desplats Christina Patrick Amy Paulino Edward Rockenstein Lawrence Hansen Anthony Adame Douglas Galasko Eliezer Masliah 《PloS one》2010,5(2)
Background
Lewy body disease is a heterogeneous group of neurodegenerative disorders characterized by α-synuclein accumulation that includes dementia with Lewy bodies (DLB) and Parkinson''s Disease (PD). Recent evidence suggests that impairment of lysosomal pathways (i.e. autophagy) involved in α-synuclein clearance might play an important role. For this reason, we sought to examine the expression levels of members of the autophagy pathway in brains of patients with DLB and Alzheimer''s Disease (AD) and in α-synuclein transgenic mice.Methodology/Principal Findings
By immunoblot analysis, compared to controls and AD, in DLB cases levels of mTor were elevated and Atg7 were reduced. Levels of other components of the autophagy pathway such as Atg5, Atg10, Atg12 and Beclin-1 were not different in DLB compared to controls. In DLB brains, mTor was more abundant in neurons displaying α-synuclein accumulation. These neurons also showed abnormal expression of lysosomal markers such as LC3, and ultrastructural analysis revealed the presence of abundant and abnormal autophagosomes. Similar alterations were observed in the brains of α-synuclein transgenic mice. Intra-cerebral infusion of rapamycin, an inhibitor of mTor, or injection of a lentiviral vector expressing Atg7 resulted in reduced accumulation of α-synuclein in transgenic mice and amelioration of associated neurodegenerative alterations.Conclusions/Significance
This study supports the notion that defects in the autophagy pathway and more specifically in mTor and Atg7 are associated with neurodegeneration in DLB cases and α-synuclein transgenic models and supports the possibility that modulators of the autophagy pathway might have potential therapeutic effects. 相似文献18.
Rumas Aslam Nicolas Girerd Beatrice Brembilla-Perrot 《Indian pacing and electrophysiology journal》2015,15(1):32-42
BackgroundSyncope in elderly patients with heart disease is a growing problem. Its aetiological diagnosis is often difficult. We intended to investigate the value of the electrophysiological study (EPS) in old patients with syncope and heart disease.MethodsEPS was performed in 182 consecutive patients with syncope and heart disease, among whom 62 patients were ≥75 years old and 120 patients <75.ResultsLeft ventricular ejection fraction was 43.9±11.7% in patients ≥75 and 41.1±12.6% in patients <75. During EPS, induced sustained ventricular arrhythmias were as frequent in both groups (27.4% in patients ≥75 versus 27.5% in patients <75, p=0.99) whereas AV conduction abnormalities were more frequent in older patients (37.1% in patients ≥75 versus 18.3% in patients<75, p<0.005). Syncope remained unexplained in 35.5% of patients ≥75 and in 51.7% of patients <75 (p<0.04). ICD was more likely to be implanted in younger patients than in patients ≥75 years (37.5% vs 21% respectively, p<0.009). During a mean follow-up period of 3.3±3 years, the 4-year-survival rate was 66.9±6.8 % in patients ≥75 and 75.9±6.2 % in patients <75 years. The main cause of death was heart failure in both groups. The factors related to a worse outcome in a multivariate analysis were low LVEF and higher age.ConclusionComplete EPS allows the identification of treatable causes in a high proportion of elderly patients with syncope and heart disease. Yet, the prognosis of these patients is mainly related to LVEF and age. 相似文献
19.
Hai-Wen Zhao Jie Lin Xue-Bao Wang Xing Cheng Jian-Yong Wang Bei-Lei Hu Yan Zhang Xiong Zhang Jian-Hong Zhu 《PloS one》2013,8(12)
Trace elements have been recognized to play an important role in the development of Parkinson’s disease (PD). However, it is difficult to precisely identify the relationship between these elements and the progression of PD because of an insufficient number of patients. In this study, quantifications of selenium (Se), copper (Cu), iron (Fe) and zinc (Zn) by atomic absorption spectrophotometry were performed in plasma from 238 PD patients and 302 controls recruited from eastern China, which is so far the largest cohort of PD patients and controls for measuring plasma levels of these elements. We found that plasma Se and Fe concentrations were significantly increased whereas Cu and Zn concentrations decreased in PD patients as compared with controls. Meanwhile, these four elements displayed differential changes with regard to age. Linear and logistic regression analyses revealed that both Fe and Zn were negatively correlated with age in PD patients. Association analysis suggests that lower plasma Se and Fe levels may reduce the risk for PD, whereas lower plasma Zn is probably a PD risk factor. Finally, a model was generated to predict PD patients based on the plasma concentrations of these four trace elements as well as other features such as sex and age, which achieved an accuracy of 80.97±1.34% using 10-fold cross-validation. In summary, our data provide new insights into the roles of Se, Cu, Fe and Zn in PD progression. 相似文献
20.
Miyuki Kono Naoto Miura Takao Fujii Koichiro Ohmura Hajime Yoshifuji Naoichiro Yukawa Yoshitaka Imura Ran Nakashima Takaharu Ikeda Shin-ichiro Umemura Takafumi Miyatake Tsuneyo Mimori 《PloS one》2015,10(12)