Winter Lilli, Goldmann Wolfgang H
Institute of Neuropathology, University Hospital Erlangen, Erlangen, Germany.
Cell Biol Int. 2015 Apr;39(4):361-3. doi: 10.1002/cbin.10384. Epub 2014 Dec 3.
Myofibrillar myopathies (MFMs) are a group of sporadic and hereditary skeletal muscle diseases, which lead to severe physical disability and premature death. Most MFMs are caused by mutations in genes encoding desmin, plectin, VCP, filamin C, BAG3, FHL-1, αB-crystallin, DNAJB6, myotilin, and ZASP. Biomechanical studies on primary human myoblasts carrying desmin and plectin mutations showed increased stiffness and reduced mechanical stress tolerance i.e., higher mechanical vulnerability compared to control cells. Higher stiffness of mutant cells may lead to higher intracellular stress at physiologic stretch and shear deformation, which in turn could trigger muscle fiber degeneration.
肌原纤维肌病（MFMs）是一组散发性和遗传性骨骼肌疾病，可导致严重的身体残疾和过早死亡。大多数MFMs是由编码结蛋白、网蛋白、VCP、细丝蛋白C、BAG3、FHL-1、αB-晶状体蛋白、DNAJB6、肌联蛋白和ZASP的基因突变引起的。对携带结蛋白和网蛋白突变的原代人成肌细胞进行的生物力学研究表明，与对照细胞相比，其硬度增加，机械应力耐受性降低，即机械易损性更高。突变细胞的较高硬度可能导致生理拉伸和剪切变形时细胞内应力增加，进而可能引发肌纤维变性。
