title: Perioral skin biopsy to study skeletal muscle protein expression.
abstract: Clinical trials for muscular dystrophy molecular treatment require multiple sampling of skeletal muscle to monitor protein rescue. This practice is invasive and could raise ethical problems. A less invasive tool to obtain sequential muscle sampling is necessary. Using indirect immunofluorescence, we evaluated muscle protein expression in myofiber bundles included in 2-2.5-mm punch skin biopsies from the perioral region from 6 healthy subjects and 6 patients with genetically defined forms of muscular dystrophy. Large intradermal bundles of orbicularis oris muscle were constantly present in skin biopsies. They showed a typical muscular antigenic pattern in controls and the expected protein defect in muscular dystrophy patients. These results demonstrate the feasibility of muscular protein expression analysis using skin biopsy. We propose this minimally invasive technique to follow-up the response to genetic or conventional therapies in muscular dystrophies and to confirm the diagnosis in some special clinical conditions.
authors.affiliation: Department of Neurological Sciences, University Federico II, Via Sergio Pansini 5, 80131 Naples, Italy. lusantor@unina.it
authors.forename: Lucio
authors.initials: L
authors.lastname: Santoro
authors.forename: Maria
authors.initials: M
authors.lastname: Nolano
authors.forename: Stefania
authors.initials: S
authors.lastname: Faraso
authors.forename: Chiara
authors.initials: C
authors.lastname: Fiorillo
authors.forename: Carmen
authors.initials: C
authors.lastname: Vitiello
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Provitera
authors.forename: Stefania
authors.initials: S
authors.lastname: Aurino
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Nigro
mesh_terms: D000328:Adult; D001707:Biopsy, Needle / Q000379:methods*; D005145:Face; D005260:Female; D005455:Fluorescent Antibody Technique; D006801:Humans; D008297:Male; D018613:Microscopy, Confocal; D008875:Middle Aged; D009124:Muscle Proteins / Q000378:metabolism; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology; D009136:Muscular Dystrophies / Q000378:metabolism* / Q000473:pathology; D018579:Patient Selection; D012867:Skin / Q000378:metabolism* / Q000473:pathology
chemical_list: D009124:Muscle Proteins