Deletion analysis of SMN1 and NAIP genes in southern Chinese children with spinal muscular atrophy     

Yu-hua Liang  Xiao-ling Chen  Zhong-sheng Yu  Chun-yue Chen  Sheng Bi  Lian-gen Mao  Bo-lin Zhou  Xian-ning Zhang 《Journal of Zhejiang University. Science. B》2009,10(1):29-34

Spinal muscular atrophy (SMA) is a disorder characterized by degeneration of lower motor neurons and occasionally bulbar motor neurons leading to progressive limb and trunk paralysis as well as muscular atrophy. Three types of SMA are recognized depending on the age of onset, the maximum muscular activity achieved, and survivorship: SMA1, SMA2, and SMA3. The survival of motor neuron (SMN) gene has been identified as an SMA determining gene, whereas the neuronal apoptosis inhibitory protein (NAIP) gene is considered to be a modifying factor of the severity of SMA. The main objective of this study was to analyze the deletion of SMN1 and NAIP genes in southern Chinese children with SMA. Here, polymerase chain reaction (PCR) combined with restriction fragment length polymorphism (RFLP) was performed to detect the deletion of both exon 7 and exon 8 of SMN1 and exon 5 of NAIP in 62 southern Chinese children with strongly suspected clinical symptoms of SMA. All the 32 SMA1 patients and 76% (13/17) of SMA2 patients showed homozygous deletions for exon 7 and exon 8, and all the 13 SMA3 patients showed single deletion of SMN1 exon 7 along with 24% (4/17) of SMA2 patients. Eleven out of 32 (34%) SMA1 patients showed NAIP deletion, and none of SMA2 and SMA3 patients was found to have NAIP deletion. The findings of homozygous deletions of exon 7 and/or exon 8 of SMN1 gene confirmed the diagnosis of SMA, and suggested that the deletion of SMN1 exon 7 is a major cause of SMA in southern Chinese children, and that the NAIP gene may be a modifying factor for disease severity of SMA1. The molecular diagnosis system based on PCR-RFLP analysis can conveniently be applied in the clinical testing, genetic counseling, prenatal diagnosis and preimplantation genetic diagnosis of SMA. Project supported by the National Natural Science Foundation of China (No. J0710043), and the Natural Science Foundation of Zhejiang Province (No. 2007C33049), China  相似文献   

Building muscle: nutrition to maximize bulk and strength adaptations to resistance exercise training     

《European Journal of Sport Science》2013,13(2):67-76

Abstract

Several nutritional strategies can optimize muscle bulk and strength adaptations and enhance recovery from heavy training sessions. Adequate energy intake to meet the needs of training and carbohydrate intake sufficient to maintain glycogen stores (>7 g carbohydrate·kg^?1·day^?1 for women; >8 g carbohydrate·kg^?1·day^?1 for men) are important. Dietary protein intake for top sport athletes should include some foods with high biological value, with a maximum requirement of approximately 1.7 g·kg^?1·day^?1 being easily met with an energy sufficient diet. The early provision of carbohydrate (>1 g·kg^?1) and protein (>10 g) early after an exercise session will enhance protein balance and optimize glycogen repletion. Creatine monohydrate supplementation over several days increases body mass through water retention and can increase high-intensity repetitive ergometer performance. Creatine supplementation can enhance total body and lean fat free mass gains during resistance exercise training; however, strength gains do not appear to be enhanced versus an optimal nutritional strategy (immediate post-exercise protein and carbohydrate). Some studies have suggested that β-OH-methyl butyric acid (β-HMB) can enhance gains made through resistance exercise training; however, it has not been compared “head to head” with optimal nutritional practices. Overall, the most effective way to increase strength and bulk is to perform sport-specific resistance exercise training with the provision of adequate energy, carbohydrate, and protein. Creatine monohydrate and β-HMB supplementation may enhance the strength gains made through training by a small margin but the trade-off is likely to be greater bulk, which may be ergolytic for any athlete participating in a weight-supported activity.  相似文献   

Effects of a resistance-training programme on endoplasmic reticulum unfolded protein response and mitochondrial functions in PBMCs from elderly subjects     

《European Journal of Sport Science》2013,13(7):931-940

Abstract

Aging has been related with a decline in the ability to handle protein folding, which leads to endoplasmic reticulum stress and alterations in unfolded protein response (UPR). Importantly, physical activity could activate the UPR and attenuate or prevent age-induced endoplasmic reticulum (ER) dysfunction. The current study evaluated the effects of a resistance exercise on UPR and mitochondrial functions in peripheral blood mononuclear cells (PBMCs) from elderly subjects. Thirty healthy women and men (age, 72.8, s_x??=?2.2 years) were randomized to a training group, which performed an 8-week resistance training programme, or a control group, which followed their daily routines. The phosphorylation of PERK and IRE1, as well as ATF4, and XBP1 protein expression, significantly increased following the training, while expression of BiP, AFT6 and CHOP remain without changes. Additionally, the intervention also induced an increase in PGC-1α and Mfn1 protein levels, while no changes were found in Drp1 expression. Finally, the resistance protocol was not able to activate PINK1/Parkin and Bnip3/Nix pathways. The results obtained seem to indicate that 8-week resistance exercise activates the UPR, stimulates mitochondrial biogenesis, maintains mitochondrial dynamics and prevents mitophagy activation by unfolded proteins in PBMCs from elderly subjects.  相似文献   

热休克蛋白70及运动对衰老的影响研究     

石真玉  别业军  吴剑明  王薇  何亚新 《军事体育进修学院学报》2013,(2):122-124

衰老的机制到目前为止没有确切的理论解释,许多研究表明衰老与HSP70的关系密切.论文对HSP70与衰老之间的相互影响及其机制等方面进行了综述,并着重探讨了运动诱导的HSP70对衰老机体的作用,以期为运动延缓衰老提供有力的理论依据.  相似文献   

Energy expenditure and dietary intake in professional football players in the Dutch Premier League: Implications for nutritional counselling     

Naomi Y.J. Brinkmans  Nick Iedema  Guy Plasqui  Loek Wouters  Wim H.M. Saris  Luc J.C. van Loon 《Journal of sports sciences》2013,31(24):2759-2767

ABSTRACT

Selecting effective dietary strategies for professional football players requires comprehensive information on their energy expenditure (EE) and dietary intake. This observational study aimed to assess EE and dietary intake over a 14-day period in a representative group (n = 41) of professional football players playing in the Dutch Premier League (Eredivisie). Daily EE, as assessed by doubly labelled water, was 13.8 ± 1.5 MJ/day, representing a physical activity level (PAL) of 1.75 ± 0.13. Weighted mean energy intake (EI), as assessed by three face-to-face 24-h recalls, was 11.1 ± 2.9 MJ/day, indicating 18 ± 15% underreporting of EI. Daily EI was higher on match days (13.1 ± 4.1 MJ) compared with training (11.1 ± 3.4 MJ; P < 0.01) and rest days (10.5 ± 3.1 MJ; P < 0.001). Daily carbohydrate intake was significantly higher during match days (5.1 ± 1.7 g/kg body mass (BM)) compared with training (3.9 ± 1.5 g/kg BM; P < 0.001) and rest days (3.7 ± 1.4 g/kg BM; P < 0.001). Weighted mean protein intake was 1.7 ± 0.5 g/kg BM. Daytime distribution of protein intake was skewed, with lowest intakes at breakfast and highest at dinner. In conclusion, daily EE and PAL of professional football players are modest. Daily carbohydrate intake should be increased to maximize performance and recovery. Daily protein intake seems more than adequate, but could be distributed more evenly throughout the day.  相似文献   

Parallel assessment of nutrition and activity in athletes: Validation against doubly labelled water, 24-h urea excretion,and indirect calorimetry     

Karsten Koehler  Hans Braun  Markus De Marées  Gerhard Fusch  Christoph Fusch  Joachim Mester 《Journal of sports sciences》2013,31(13):1435-1449

Abstract

The assessment of nutrition and activity in athletes requires accurate and precise methods. The aim of this study was to validate a protocol for parallel assessment of diet and exercise against doubly labelled water, 24-h urea excretion, and respiratory gas exchange. The participants were 14 male triathletes under normal training conditions. Energy intake and doubly labelled water were weakly associated with each other (r = 0.69, standard error of estimate [SEE] = 304 kcal · day^?1). Protein intake was strongly correlated with 24-h urea (r = 0.89) but showed considerable individual variation (SEE = 0.34 g · kg^?1 · day^?1). Total energy expenditure based on recorded activities was highly correlated with doubly labelled water (r = 0.95, SEE = 195 kcal · day^?1) but was proportionally biased. During running and cycling, estimated exercise energy expenditure was highly correlated with gas exchange (running: r = 0.89, SEE = 1.6 kcal · min^?1; cycling: r = 0.95, SEE = 1.4 kcal · min^?1). High exercise energy expenditure was slightly underestimated during running. For nutrition data, variations appear too large for precise measurements in individual athletes, which is a common problem of dietary assessment methods. Despite the high correlations of total energy expenditure and exercise energy expenditure with reference methods, a correction for systematic errors is necessary for the valid estimation of energetic requirements in individual athletes.  相似文献   

Expression of a fusion protein of human ciliary neurotrophic factor and soluble CNTF-Receptor and identification of its activity     

孙益  葛霁光 《浙江大学学报(A卷英文版)》2003,4(3):340-345

Ciliary neurotrophic factor (CNTF) has pleiotropic actions on many neuronal populations as well as on glia. Signal transduction by CNTF requires that it bind first to CNTF-R, permitting the recruitment of gp130 and LIF-R, forming a tripartite receptor complex. Cells that only express gp130 and LIF-R, but not CNTF-R are refractory to stimulation by CNTF. On many target cells CNTF only acts in the presence of its specific agonistic soluble receptors. We engineered a soluble fusion protein by linking the COOH-terminus of sCNTF-R to the NH₂-terminus of CNTF. Recombinant CNTF/sCNTF-R fusion protein (Hyper-CNTF) was successfully expressed in COS-7 cells. The apparent molecular mass of the Hyper-CNTF protein was estimated from western blots to be 75 kDa. Proliferation assays of transfected BAF/3 cells in response to CNTF and Hyper-CNTF were used to verify the activity of the cytokines. The proliferative results confirmed that CNTF required homodimerization of the gp130, CNTF-R and LIF-R receptor subunit whereas Hyper-CNTF required heterodimerization of the gp130 and LIF-R receptor subunit. We concluded that the fusion protein Hyper-CNTF had superagonistic activity on target cells expressing gp130 and LIF-R, but lacking membrane-bound CNTF-R. Project supported by the Scientific Research Foundation for the Returned Overseas Chinese Scholar, Zhejiang Province, China and SFB415, TP B5, Germany.  相似文献   

量热和热分析在生物大分子体系研究中的应用     

周晓蕾  刘京生  王保怀  李芝芬 《保定师专学报》2002,15(2):41-44

讨论了差示扫描量热法(DSC)和等温滴定量热法(ITC)用于生物大分子体系研究所得到的一些实验结果。内容包括了沙冬青抗冻蛋白热滞活性的测定、胶束解体浓度的确定二个方面内容。所有研究结果都给出了有关生物大分子变化的明确信息和确切结论。  相似文献   

人类新基因HBVDNAPTP1结合蛋白的生物信息学分析     

伦永志  刘为国  朱莹  张国元  毛小强  司红敏  王琳 《大连大学学报》2006,27(6):80-83

[目的]应用生物信息学分析人类新基因乙型肝炎病毒(HBV)DNA聚合酶(Polym erase)反式调节蛋白(HBVDNAPTP1)结合蛋白(HBVDNAPTP1BP).[方法]利用生物信息学技术分析HBVDNAPTP1BP基因的染色体定位与组织表达,以及编码蛋白的化学物理性质与结构特征.[结果]HBVDNAPTP1BP基因染色体定位于1号染色体短臂3区5带1亚带,可在组织中低表达,但在多个组织中无表达.HBVD-NAPTP1BP的相对分子量为11 905.6,理论pI为7.72,不同条件下的消光系数为14 230 M-1cm-1或13 980M-1cm-1(280 nm),在体外哺乳动物网状细胞中的半寿期为30 h,并且无卷曲螺旋区域,但具有3个较强的疏水区域.HBVDNAPTP1BP无特殊二级结构,仅有1个蛋白激酶C磷酸化位点,不具有跨膜螺旋结构,无信号肽序列,定位于细胞核中.[结论]应用生物信息学对HBVDNAPTP1BP进行了分析,为进一步研究其生物学功能及其在乙型肝炎、肝细胞癌中的作用机制提供了依据和线索.  相似文献   

雌激素受体(ER)与基因蛋白(P53、erbB-2)在胃癌中表达的研究     

薄爱华  张世棋  蒋丽娜  张晓丽  赵秀芳  何玉然 《河北北方学院学报(医学版)》2001,(5)

目的:探讨ER、erbB-2和P53在胃癌表达及相关性。方法:取胃癌手术标本119例,SP免疫组织化学染色。结果:ER、erbB-2和P53在胃癌表达率分别为63.87％,75.51％和73.11％;三者同时阳性者31.93％;ER与P53同时阳性者37.82％;ER与erbB-2同时阳性者33.61％;ER在高分化组阳性率高于低分化组(P<0.05);而erbB-2和P53在低分化组阳性率高于高分化组。70岁以上组P53、ER和erbB-2表达率均较高。结论:ER、P53和erbB-2在胃癌中表达率与癌瘤分化程度相关。P53和erbB-2有相关性,而且它们是胃癌预后不良的指标。  相似文献