Utrophin correlates with disease severity in Duchenne muscular dystrophy

This month in Med, the description of an unusually severely affected DMD patient suffering from a large deletion in the dystrophin gene confirms that absence of utrophin worsens the dystrophy and supports the concept that utrophin upregulation ameliorates the pathology. This study may guide the development of dystrophin-based gene therapies. This month in Med, the description of an unusually severely affected DMD patient suffering from a large deletion in the dystrophin gene confirms that absence of utrophin worsens the dystrophy and supports the concept that utrophin upregulation ameliorates the pathology. This study may guide the development of dystrophin-based gene therapies. Unusually severe muscular dystrophy upon in-frame deletion of the dystrophin rod domain and lack of compensation by membrane-localized utrophinGorokhova et al.MedMarch 10, 2023In BriefUtrophin upregulation partially compensates for dystrophin absence in DMD patient muscle fibers. Gorokhova et al. describe a unique patient with a large deletion producing a much shorter dystrophin that likely displaces utrophin from the membrane. The resulting phenotype is unusually severe, setting a size limit for gene therapy dystrophin constructs. Full-Text PDF