Progress in muscular dystrophy research with special emphasis on gene therapy.
Duchenne muscular dystrophy (DMD) is an X-linked, progressive muscle-wasting disease caused by mutations in the DMD gene. Since the disease was described by physicians in the 19th century, information about the subject has been accumulated. One author (Sugita) was one of the coworkers who first reported that the serum creatine kinase (CK) level is elevated in progressive muscular dystrophy patients. Even 50 years after that first report, an elevated serum CK level is still the most useful marker in the diagnosis of DMD, a sensitive index of the state of skeletal muscle, and useful to evaluate therapeutic effects. In the latter half of this article, we describe recent progress in the therapy of DMD, with an emphasis on gene therapies, particularly exon skipping.
Sugita
Hideo
H
National Center of Neurology and Psychiatry, Tokyo, Japan. sugita@ncnp.go.jp
Takeda
Shin'ichi
S
D000818:Animals; D002986:Clinical Trials as Topic; D004195:Disease Models, Animal; D005091:Exons / Q000235:genetics; D015316:Genetic Therapy / Q000379:methods*; D006801:Humans; D009136:Muscular Dystrophies / Q000097:blood / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy*