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Abstract: Objective To investigate the significance on the expression of dystrophin in muscle tissue of the patients with myodystrophy.

摘 要: 目的 探讨症患者组织中表达的意义。

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Osmosis-

Without the support of dystrophin in place, the sarcolemma essentially wilts and becomes unstable.

没有缩蛋白的支撑,膜塌缩变得不稳定。

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Osmosis-

Okay, so as a quick recap: the protein dystrophin is super important for stabilizing the muscle cell membrane.

缩蛋白对纤维稳定性的维持极其重要。

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Osmosis-

Alright, so the dystrophin gene is a huge gene on the X-chromosome, that has 79 exons and is over 2 million base pairs in length.

缩蛋白基因是X染色体一个庞大的基因,含有79个外显子,全长超过2000kbp(书缩写为bp,碱基对)。

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Osmosis-

Now, the fact that both Duchenne and Becker muscular dystrophy result from mutations in the same dystrophin gene means that they are " allelic disorders, "

DMD和BMD都是由于同一缩蛋白基因突变引起的,意味着二者是“等位基因疾病”。

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Osmosis-

Within that group, dystrophinopathies are the most common, which includes Duchenne muscular dystrophy, or DMD, and Becker muscular dystrophy, both of which result from mutations in the dystrophin gene.

这些功能紊乱中,营养不良疾病是最见的,包括Duchenne型营养不良(DMD)和Becker型营养不良(BMD);这二者都是由缩蛋白基因突变导致的。

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Osmosis-

In addition to those two, genetic mutations in other genes are responsible for several dozen other muscular dystrophies, some of which code for proteins that form a protein complex with dystrophin protein.

除了这两种疾病,其它基因的突变导致了其它几十种营养不良,其中一些基因编码形成缩蛋白相关蛋白复合体的蛋白质。

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Osmosis-

Now if this inactivation's random, you'd expect about half of the female's cells to have a functional dystrophin gene and the other half to have a defective dystrophin gene, and these people are typically asymptomatic.

如果失活是随机的,可以预料到女性一半的细胞中缩蛋白基因是正的,另一半是有缺陷的,这些人无临床症状。

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Osmosis-

Having said that, if more cells end up with the defective dystrophin gene, and less with the functional one, they can end up being " manifesting carriers, " meaning that they manifest or show some symptoms.

话虽如此,如果机体中有该基因缺陷的细胞更多,而正基因更少,这一类人群就是“显性携带者”,意味着他们也会有部分症状表现。

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Osmosis-

Later symptoms include needing a wheelchair because of severe weakness, developing respiratory failure because of a weak diaphragm, scoliosis, and developing dilated cardiomyopathy and arrhythmias since the dystrophin protein is also expressed in heart muscle.

后期症状包括,由于严重的无力需坐轮椅,由于膈无力会发生呼吸衰竭、脊柱侧凸,因为缩蛋白也表达于心纤维,还会引发扩张型心病和心律失

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