Dystrophy 英 /'dɪstrəfɪ/ 美 /'dɪstrəfi/
释义 n. 营养障碍；营养失调
例句 People with myotonic dystrophy have prolonged muscle tensing (myotonia) and are not able to relax certain muscles after use.
作者： Verhaart I
期刊：Nat Rev Neurol
Because DMD pathology is caused by the lack of functional dystrophin, restoring the function or expression of dystrophin is an obvious therapeutic approach. Dystrophin-targeted gene therapies can be devised to act at the DNA, pre-mRNA or mRNA levels (Fig. 1; Table 1). However, DMD poses several challenges to genetic therapies. First, the target tissue, muscle, is highly abundant and makes up 30–40% of our body mass. The human body has >500 different skeletal muscles, almost all of which are affected by DMD. Furthermore, muscle is a postmitotic tissue, and muscle fibres and fibre bundles are surrounded by layers of connective tissue that hinder the delivery of expression vectors such as stem cells and viral particles. Second, the loss of muscle tissue and function starts from a very early age and is, as yet, irreversible. Therefore, although restoration of dystrophin expression is anticipated to slow down or even halt the progression of DMD, it will not restore any muscle tissue that has already been lost. Even genetic therapies that result in expression of high amounts of functional dystrophin are not anticipated to be curative when given to a patient who has already lost a substantial part of his muscle tissue and function. As such, early intervention is essential.