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| Advances in the treatment of duchenne muscular dystrophy#br# |
| SHI Feifei LIU Hongyan |
| Institute of Medical Genetics, Zhengzhou University People’s Hospital Henan University People’s Hospital Henan Provincial People’s Hospital, Henan Province, Zhengzhou 450003, China |
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Abstract Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disease caused by mutations in the DMD gene. The DMD gene encodes dystrophin, which plays an important role in the normal contraction of muscles. When the DMD gene mutation fails to produce dystrophin, the muscle membrane is damaged, leading to continuous deterioration of muscle function. The treatment of DMD is mainly through various methods such as inhibiting the inflammatory response, up-regulating or restoring the expression of dystrophin, regulating Ca2+, and gene therapy to achieve the purpose of alleviating symptoms or curing. In recent years, some important advances have been made in the treatment of DMD, such as new glucocorticoids that have achieved good results while reducing side effects; breakthroughs have also been made in the development of new drugs for exon skip 51 and 53; new oral formulations of read-through therapy for nonsense mutations have also been developed; some breakthroughs have also been made in the treatment of Ca2+ regulators and myostatin inhibitors, in addition, gene editing holds great promise for a complete cure of DMD at the genetic level.
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