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71.
72.
Canine GM2‐Gangliosidosis Sandhoff Disease Associated with a 3‐Base Pair Deletion in the HEXB Gene
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![点击此处可从《Journal of veterinary internal medicine / American College of Veterinary Internal Medicine》网站下载免费的PDF全文](/ch/ext_images/free.gif)
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73.
Familial Congenital Methemoglobinemia in Pomeranian Dogs Caused by a Missense Variant in the NADH‐Cytochrome B5 Reductase Gene
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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74.
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
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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
75.
Disaccharide combinations and the expression of enolase3 and plasma membrane Ca2+ ATPase isoform in sturgeon sperm cryopreservation
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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
76.
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
77.
套袋对鸭梨果实香气及糖酸组分的影响 总被引:1,自引:0,他引:1
采用静态顶空和气相色谱-质谱联用技术、高效液相色谱技术,研究了生长期套袋对鸭梨果实挥发性成分、糖酸组分等风味物质的组成和含量的影响。结果表明:套袋导致鸭梨香气物质种类减少和相对百分含量降低。套袋鸭梨采收时测定的香气成分有3类18种,其中酯类15种、烯类2种、醇类1种;不套袋鸭梨采收时测定的香气成分有3类26种,其中酯类23种、烯类2种、醇类1种。鸭梨的主要香气成分是乙酸己酯、己酸乙酯、丁酸乙酯。套袋和不套袋鸭梨均检测到3种糖、4种有机酸组分,其中糖组分主要为果糖,其次为蔗糖、葡萄糖,有机酸组分主要为苹果酸,其次为乙酸、柠檬酸、草酸,但不同处理间含量存在差异。 相似文献
78.
79.
结合生态农村园发展的要求及对同安造水村的综合考察,从多角度来分析市场形势和造水村的人文、地理等各条件的综合状况,为造水村观光农业旅游资源的合理开发提供较为科学的理论依据,同时,为同安区汀溪镇发展成为厦门市的后花园提供借鉴。 相似文献
80.
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