title: Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies.
abstract: Rimmed vacuoles in myofibers are thought to be due to the accumulation of autophagic vacuoles, and can be characteristic in certain myopathies with protein inclusions in myofibers. In this study, we performed a detailed clinical, molecular, and pathological characterization of Becker muscular dystrophy patients who have rimmed vacuoles in muscles. Among 65 Becker muscular dystrophy patients, we identified 12 patients who have rimmed vacuoles and 11 patients who have deletions in exons 45-48 in DMD gene. All patients having rimmed vacuoles showed milder clinical features compared to those without rimmed vacuoles. Interestingly, the rimmed vacuoles in Becker muscular dystrophy muscles seem to represent autophagic vacuoles and are also associated with polyubiquitinated protein aggregates. These findings support the notion that rimmed vacuoles can appear in Becker muscular dystrophy, and may be related to the chronic changes in muscle pathology induced by certain mutations in the DMD gene.
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Kazunari
authors.initials: K
authors.lastname: Momma
authors.forename: Satoru
authors.initials: S
authors.lastname: Noguchi
authors.forename: May Christine V
authors.initials: MC
authors.lastname: Malicdan
authors.forename: Yukiko K
authors.initials: YK
authors.lastname: Hayashi
authors.forename: Narihiro
authors.initials: N
authors.lastname: Minami
authors.forename: Keiko
authors.initials: K
authors.lastname: Kamakura
authors.forename: Ikuya
authors.initials: I
authors.lastname: Nonaka
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D016189:Dystrophin / Q000235:genetics; D005091:Exons / Q000235:genetics; D006801:Humans; D008875:Middle Aged; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000235:genetics / Q000473:pathology*; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics / Q000473:pathology*; D014617:Vacuoles / Q000235:genetics / Q000473:pathology*; D055815:Young Adult
chemical_list: C484258:DMD protein, human; D016189:Dystrophin