title: Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses.
abstract: Immunoblot characterization and immunofluorescence localization of dystrophin are presented for 76 human patients with various neuromuscular diseases. Normal dystrophin (shown by immunoblotting) was invariably visualized as a continuous, peripheral membrane immunostaining of myofibers. Biochemical abnormalities of dystrophin (either lower or higher molecular weight dystrophin) resulted in patchy, discontinuous immunostaining, suggesting that the abnormal dystrophin proteins are not capable of creating a complete membrane cytoskeleton network. There was a very strong correlation of clinical diagnoses with the type of dystrophin abnormality; all Duchenne muscular dystrophy patient muscle contained no detectable dystrophin, Becker muscular dystrophy patient muscle had clearly abnormal dystrophin, and unrelated diseases showed normal dystrophin. However, a single patient of five carrying the diagnosis of Fukuyama dystrophy showed no detectable dystrophin and thus appeared to be a Duchenne dystrophy patient by the biochemical assays. We know of no other case of a patient with a disease thought to be unrelated to Duchenne/Becker dystrophy yet demonstrating dystrophin deficiency. Based on the data presented, we conclude that immunofluorescence is the best technique for the detection of female carriers of Duchenne dystrophy, whereas immunoblotting appears superior for the prognostic diagnosis of Becker muscular dystrophy.
authors.affiliation: National Institute of Neuroscience, Tokyo, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Arahata
authors.forename: E P
authors.initials: EP
authors.lastname: Hoffman
authors.forename: L M
authors.initials: LM
authors.lastname: Kunkel
authors.forename: S
authors.initials: S
authors.lastname: Ishiura
authors.forename: T
authors.initials: T
authors.lastname: Tsukahara
authors.forename: T
authors.initials: T
authors.lastname: Ishihara
authors.forename: N
authors.initials: N
authors.lastname: Sunohara
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
authors.forename: E
authors.initials: E
authors.lastname: Ozawa
authors.forename: H
authors.initials: H
authors.lastname: Sugita
mesh_terms: D000595:Amino Acid Sequence; D015415:Biomarkers / Q000032:analysis*; D002353:Carrier State; D016189:Dystrophin; D005455:Fluorescent Antibody Technique; D006801:Humans; D015151:Immunoblotting; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000032:analysis* / Q000235:genetics; D009132:Muscles / Q000473:pathology*; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D009468:Neuromuscular Diseases / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology
chemical_list: D015415:Biomarkers; D016189:Dystrophin; D009124:Muscle Proteins