首页> 外文期刊>Journal of Molecular Biology Research >Characterization of the TRPC3 Gene in Myotonic Goats: Further Insight Into Myotonia congenita and Muscular Dystrophy
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Characterization of the TRPC3 Gene in Myotonic Goats: Further Insight Into Myotonia congenita and Muscular Dystrophy

机译:肌强直性山羊中TRPC3基因的表征:进一步了解先天性肌强直和肌营养不良症。

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Myotonia congenita (Mc) is a muscle disorder seen in both Myotonic goats and humans, caused by mutations in the chloride ion channel gene (CLCN1). Calcium signaling has been coupled to the function of the CLCN1, but this interaction is not well understood, as individuals with Mc do not experience muscular dystrophy (MD). Over expression of the Transient Receptor Cation Channel 3 ( TRPC3 ), a protein responsible for calcium influx and muscle contraction causes an elevation in calcium which results in a phenotype of MD. Evaluation of the TRPC3 gene in Myotonic goats has not been conducted. Therefore the objective of this experiment was to evaluate gene expression of the TRPC3 gene in Myotonic vs. Spanish goats (control). Total RNA was isolated from whole blood samples. Cross species primers were designed from the human, bovine, and mouse TRPC3 cDNA alignments. The goat partial TRPC3 gene showed 98%, 92% and 91%, and 100%, 98%, and 98% nucleotide and amino acid sequence homology to the bovine, human and mouse TRPC3 genes respectively. Quantitative Real Time PCR showed that gene expression of TRPC3 was 77% higher (P<0.05) in Myotonic than Non-Myotonic (Spanish) goats. Male Myotonic goats expressed 67% higher levels (P<0.05) of TRPC3 than females. The TRPC3 gene expression was 90% higher (P<0.05) in Myotonic goats older than 4 years of age. These data indicate that the TRPC3 gene is a potential biomarker to further study Myotonia congenita in Myotonic goats and the interrelationship of the mechanism of calcium signaling in human Mc and MD.
机译:先天性肌强直(Mc)是一种在肌强直性山羊和人类中均见到的肌肉疾病,由氯离子通道基因(CLCN1)突变引起。钙信号已经与CLCN1的功能耦合,但是这种相互作用还没有被很好地理解,因为患有Mc的人不会经历肌肉营养不良(MD)。瞬时受体阳离子通道3(TRPC3)的过表达,负责钙内流和肌肉收缩的蛋白质会引起钙的升高,从而导致MD的表型。尚未进行强直性山羊中TRPC3基因的评估。因此,本实验的目的是评估在强直性山羊与西班牙山羊(对照)中TRPC3基因的基因表达。从全血样品中分离总RNA。跨物种引物是根据人,牛和小鼠TRPC3 cDNA比对设计的。山羊部分TRPC3基因与牛,人和小鼠TRPC3基因分别显示出98%,92%和91%,以及100%,98%和98%的核苷酸和氨基酸序列同源性。实时定量PCR结果表明,在强直性山羊中,TRPC3的基因表达比非强直性山羊(西班牙)高77%(P <0.05)。雄性强直性山羊的TRPC3水平比雌性高67%(P <0.05)。在大于4岁的强直性山羊中,TRPC3基因表达高90%(P <0.05)。这些数据表明,TRPC3基因是进一步研究强直性山羊先天性肌强直与人Mc和MD中钙信号传导机制的相互关系的潜在生物标记。

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