THE HUMAN PERSPECTIVE - 首都师范大学精品课程网.pptVIP

The Molecular Basis of Muscular Dystrophy THE HUMAN PERSPECTIVE The Molecular Basis of Muscular Dystrophy is a common ,debilitating disorder that strikes 逐渐衰弱的 病症，不舒 about 1 in 3,300 males. This is the disease that is most often associated with the name “muscular 相关联的 dystrophy,” and it is the primary subject of this 受检者 section. But there are several other rare types of Muscular dystrophy that have revealed interesting insights into the relationship 自知力，顿悟 between the cytoskeleton ,plasma membrane, and the extracellular matrix. We will begin with 细胞外基质 Duchenne muscular dystrophy (DMD). 2.The gene responsible for DMD is named dystrophin , and it has the distinction of being the 抗肌肉萎缩蛋白 largest gene so far identified in the mammalian 　　　　　　　　已鉴定的 哺乳动物的 　genome . 基因组 The gene stretches for more than 2.3 million bases along the X chromosome , a length that requires 16 hours to be transcribed into a single 转录 mRNA! Only about 0.6 percent of the gene actually codes for amino acids; the remaining 99.4percent consist of noncoding introns (Section 11.3) 基因内区 3.The protein encoded by the dystrophin gene reside in the membrane skeleton of striated muscle cells. 横纹肌的 Like the related spectrin 血影蛋白molecules of the erythrocyte 红血球cytoskeleton (page 149), dystrophin molecules are rod-shaped dimers 杆状 二聚物 that lie just beneath the plasma membrane (Figure 1). In addition, dystrophin provides structural support for the plasma membrane as the muscle fiber repeatedly contracts and relaxes. 4.DMD is a severe form of muscular dystrophy, which is characterized at the cellular level by the