Canine GM2‐Gangliosidosis Sandhoff Disease Associated with a 3‐Base Pair Deletion in the HEXB Gene          下载免费PDF全文

P. Wang  P.S. Henthorn  E. Galban  G. Lin  T. Takedai  M. Casal 《Journal of veterinary internal medicine / American College of Veterinary Internal Medicine》2018,32(1):340-347

Background

GM2‐gangliosidosis is a fatal neurodegenerative lysosomal storage disease (LSD) caused by deficiency of either β‐hexosaminidase A (Hex‐A) and β‐hexosaminidase B (Hex‐B) together, or the GM2 activator protein. Clinical signs can be variable and are not pathognomonic for the specific, causal deficiency.

Objectives

To characterize the phenotype and genotype of GM2‐gangliosidosis disease in an affected dog.

Animals

One affected Shiba Inu and a clinically healthy dog.

Methods

Clinical and neurologic evaluation, brain magnetic resonance imaging (MRI), assays of lysosomal enzyme activities, and sequencing of all coding regions of HEXA, HEXB, and GM2A genes.

Results

A 14‐month‐old, female Shiba Inu presented with clinical signs resembling GM2‐gangliosidosis in humans and GM1‐gangliosidosis in the Shiba Inu. Magnetic resonance imaging (MRI) of the dog's brain indicated neurodegenerative disease, and evaluation of cerebrospinal fluid (CSF) identified storage granules in leukocytes. Lysosomal enzyme assays of plasma and leukocytes showed deficiencies of Hex‐A and Hex‐B activities in both tissues. Genetic analysis identified a homozygous, 3‐base pair deletion in the HEXB gene (c.618‐620delCCT).

Conclusions and Clinical Importance

Clinical, biochemical, and molecular features are characterized in a Shiba Inu with GM2‐gangliosidosis. The deletion of 3 adjacent base pairs in HEXB predicts the loss of a leucine residue at amino acid position 207 (p.Leu207del) supporting the hypothesis that GM2‐gangliosidosis seen in this dog is the Sandhoff type. Because GM1‐gangliosidosis also exists in this breed with almost identical clinical signs, genetic testing for both GM1‐ and GM2‐gangliosidosis should be considered to make a definitive diagnosis.  相似文献   

Familial Congenital Methemoglobinemia in Pomeranian Dogs Caused by a Missense Variant in the NADH‐Cytochrome B5 Reductase Gene          下载免费PDF全文

H. Shino  Y. Otsuka‐Yamasaki  T. Sato  K. Ooi  O. Inanami  R. Sato  M. Yamasaki 《Journal of veterinary internal medicine / American College of Veterinary Internal Medicine》2018,32(1):165-171

Background

In veterinary medicine, congenital methemoglobinemia associated with nicotinamide adenine dinucleotide (NADH)‐cytochrome b5 reductase (b5R) deficiency is rare. It has been reported in several breeds of dogs, but little information is available about its etiology.

Objectives

To analyze the NADH‐cytochrome b5 reductase gene, CYB5R3, in a Pomeranian dog family with methemoglobinemia suspected to be caused by congenital b5R deficiency.

Animals

Three Pomeranian dogs from a family with methemoglobinemia were analyzed. Five healthy beagles and 5 nonrelated Pomeranian dogs without methemoglobinemia were used as controls.

Methods

Methemoglobin concentration, b5R activity, and reduced glutathione (GSH) concentration were measured, and a turbidity index was used to evaluate Heinz body formation. The CYB5R3 genes of the affected dog and healthy dogs were analyzed by direct sequencing.

Results

Methemoglobin concentrations in erythrocytes of the affected dogs were remarkably higher than those of the control dogs. The b5R activity of the affected dogs was notably lower than that of the control dogs. DNA sequencing indicated that this Pomeranian family carried a CYB5R3 gene missense variant (ATC→CTC at codon 194) that resulted in the replacement of isoleucine (Ile) by leucine (Leu).

Conclusions and Clinical Importance

This dog family had familial congenital methemoglobinemia caused by b5R deficiency, which resulted from a nonsynonymous variant in the CYB5R3 gene. This variation (c.580A>C) led to an amino acid substitution (p.Ile194Leu), and Ile194 was located in the proximal region of the NADH‐binding motif. Our data suggested that this variant in the canine CYB5R3 gene would affect function of the b5R in erythrocytes.  相似文献   

Interaction between the sequence of feeding of hay and concentrate,and boiling of barley on feed intake,the activity of hydrolytic enzymes and fermentation in the hindgut of Arabian mares          下载免费PDF全文

A. Kiani  F. Hoseini  P. Ghorbaninejad  A. Azarfar  M. Kreuzer  A. Azizi 《Journal of animal physiology and animal nutrition》2018,102(3):810-817

The interaction between the sequence of feeding of hay and concentrate and the hydrothermal processing of barley in alleviating concentrate effects on intake, and hindgut fermentation in horses was tested. Six Arabian mares (4–10 years of age, 410 ± 35 kg body weight) were used to evaluate the effects of feeding sequence (FS) and type of barley (TB) on intake, and faecal volatile fatty acids (VFA), activities of α‐amylase (AA: EC 3.2.1.1), carboxymethyl cellulase (CMCase: EC 3.2.1.4), microcrystalline cellulase (MCCase: EC 3.2.1.91) and general filter paper degrading activity (FPD). Mares were offered a ration of air‐dried alfalfa and concentrate (70:30 as‐fed) in four subsequent periods of 14 days including 8 days of adaptation and 6 days of sampling. In each period and each meal, mares received concentrate either 30 min after (HC) or 30 min before (CH) alfalfa hay. Barley was either milled or boiled in water. Rectal samples were grabbed directly from rectum once per period. Mares subjected to CH had higher dry matter intakes than mares under HC regime. The acetate:propionate ratio (A:P ratio) in rectal content was higher with CH than HC. The AA activity was higher under CH than under HC. Mares fed boiled barley had lower rectal concentrations of VFA and propionate and a higher A:P ratio than mares fed milled barley. Furthermore, the rectal content showed a higher MCCase activity but a lower AA activity when mares were fed boiled compared with milled barley. Interactions between FS and TB were observed with respect to CMCase activity, and concentrations of propionate and valerate. In conclusion, the present results suggest that both, feeding concentrate before hay and boiling the barley, might improve the hindgut environment in Arabian mares, and that the two measures were mostly additive and sometimes even synergistic.  相似文献   

Disaccharide combinations and the expression of enolase3 and plasma membrane Ca2+ ATPase isoform in sturgeon sperm cryopreservation          下载免费PDF全文

P Li  H Du  XM Qiao  ZG Liu  QW Wei 《Reproduction in domestic animals》2018,53(2):472-483

Acipenser sinensis and Acipenser dabryanus are critically endangered species, so germplasm conservation via cryopreservation of sperm is necessary. Disaccharides can act as membrane‐impermeable cryoprotectants, and enolase3 (ENO3) and plasma membrane Ca²⁺ ATPase isoform (PMCA2) are proteins associated with sperm quality. We considered seven characteristics of sperm quality in cultured brood stock from A. sinensis and A. dabryanus. We tested use of sucrose or trehalose alone and in combination at different concentrations for cryopreservation of A. dabryanus sperm. A low concentration of sucrose plus trehalose (S₁₅T₁₅) was optimal. Mixing of the extender with sucrose, lactose, or trehalose alone or with pairwise mixtures revealed that a mixture of lactose and trehalose (L₁₅T₁₅) gave the best results for both A. sinensis and A. dabryanus. Enolase3 and PMCA2 expression levels were measured in cryopreserved A. sinensis sperm via Western blotting. Relative ENO3 and PMCA2 expression levels were examined, and the relationship between disaccharide composition, sperm quality and protein expression was explored in A. sinensis. The results showed that relative ENO3 and PMCA2 expression levels were the highest at L₁₅T₁₅ in cryopreserved A. sinensis sperm. There were significant positive correlations between ENO3 expression and percentage membrane integrity, and between PMCA2 expression and sperm motility parameters (percentage of motile sperm, curvilinear velocity, straight‐line velocity and average path velocity; p < .05) in cryopreserved A. sinensis sperm. Our results indicate the optimal disaccharide combination and concentrations for cryopreservation of A. sinensis and A. dabryanus sperm and suggest that ENO3 and PMCA2 expression levels could serve as a valuable indicator of sperm quality in A. sinensis.  相似文献   

三维CAD技术在机械设计中的应用     

温月祥 《湖南农机》2011,38(7):77-78

现代计算机在技术和性能上越发成熟,再加之网络的普及和信息的智能化处理技术的提高,三维CAD技术本身也正逐步成熟,因此,正确地把握CAD技术的发展趋势对我国机械工程中的设计工作具有深远的意义.  相似文献   

Relationship Between Plasma GH,Metabolites, Lipogenic Genes,and MMP3 Expression in PD3 Chicken Line and Role of Fermented Yeast Culture in Alleviating Heat Stress     

《The Journal of Applied Poultry Research》2019,28(3):669-678

  相似文献   

基于“3S”技术的辽宁省某尾矿库扩容工程生态影响预测与评价     

申彦科  张伟 《林业调查规划》2014,(1):5-8

以辽宁省某尾矿库为例,基于GIS技术,利用2010年的TM遥感影像及地形图,预测该尾矿库扩容后的生态影响。分析结果显示:尾矿库扩容工程对生态的影响主要体现在土地利用、植被、生态景观和地形地貌的变化4个方面。  相似文献   

库车坳陷克深地区现今地应力场及储层裂缝数值模拟          下载免费PDF全文

雷刚林  戴俊生  吴超  王珂  李青  王媛  何巧林  吴庆宽 《勤云标准版测试》2014,34(2):31-36

克深三维区目前处于勘探开发的前期,需要明确地应力场及地下储层裂缝的分布规律,指导开发工作,但该区存在地层埋深大、取心困难、成像测井资料缺乏等实际情况,应力场研究及裂缝预测难度大。利用有限元分析方法,以井点现今地应力值为约束进行了克深三维区现今地应力场的数值模拟,同时建立了应力应变与裂缝参数的定量关系模型,利用古今应力场结合法对克深三维区的裂缝参数进行了预测,模拟结果显示构造高部位和断层带是低应力值区及裂缝的有利发育区。裂缝的数值模拟结果与测井解释结果对比表明,预测结果与实钻吻合度较高,裂缝预测效果较好。  相似文献   

类器官的研究进展及应用前景     

李娟娟  张君涛  赵英博  贺来增  张帆  李怡屏  闫鹏辉  胡赛娜  吕玉林  邓立新  张志平 《中国畜牧兽医》2021,48(6):1985-1994

类器官（organoids）来源于自组织和自我更新的干细胞，是利用干细胞的自组织特性进行体外3D培养后形成的细胞团，与来源器官密切相关，再现了来源器官的三维细胞结构，并为探索来源器官的发病机制提供了新的模型。类器官系统是由自分泌、旁分泌或邻分泌信号调节下的细胞，或者外源性添加的细胞外基质（extracellular matrix，ECM）底物、小分子和生长因子等衍生而来，这些因素的相互作用创造了一个动态的环境，指导干细胞的自我更新和分化，以及细胞在类器官中的自我组装。诱导多能干细胞（induced pluripotent stem cells，iPSC）重编程方法结合3D类器官工具，使患者来源的类器官作为动物模型和人类临床试验之间的桥梁，是对细胞研究和在体试验的补充。在研究来源器官发育、生物学和病理生理学方面，类器官不仅是一种比传统细胞培养更具生理相关性的体外模型，而且还是再生医学和个性化医学领域中的新模型，有望成为研究营养素、药物、毒物及毒素等的作用机制及药物的筛选、再生医学等领域的重要模型。总之，类器官技术的发展增强了人们对器官和组织生理生化功能的认知。作者对肠、脑、肺脏、肝脏、子宫、卵巢等类器官培养和应用的研究进展进行综述，以期为类器官相关科研及应用提供参考。  相似文献   

3％高渗苯氧威防治春尺蠖试验     

闫宏  江成旭  李冰 《吉林林业科技》2011,40(1):23-25

利用2000倍液、3000倍液、4000倍液3个不同体积分数的3％高渗苯氧威进行了室内、室外防治春尺蠖幼虫试验，结果表明：施药72h后，室内试验的3个体积分数平均死亡率均达到100．0％；室外试验以2000倍液和3000倍液死亡率为最高，达到98．5％，防治效果显著。3％高渗苯氧威是理想的防治春尺蠖的仿生物杀虫剂。  相似文献