title: Spinal muscular atrophy: DNA fragmentation and immaturity of muscle fibers.
abstract: The presence of apoptotic fibers and the embryonic proteins desmin and vimentin were investigated in muscle biopsy specimens from patients with spinal muscular atrophy (SMA). Apoptosis was studied in 24 cases of SMA by means of in situ end labeling of nuclear DNA fragmentation using TUNEL staining and immunohistochemistry. Apoptotic nuclei were observed in 54.1% of the cases, and desmin and vimentin positive fibers were found in the majority of cases. A significant negative correlation was observed between the number of apoptotic nuclei and the duration of the disease, as well as between the number of desmin and vimentin positive fibers and the age of onset. These findings indicate that apoptosis, although probably a secondary phenomenon following denervation, plays a role in the progress of spinal muscular atrophy.
authors.affiliation: Myopathology Laboratory, Department of Neurology, Athens National University, Eginition Hospital, 74 Vas. Sofias Ave., GR-115 28 Athens, Greece.
authors.forename: Demetrios
authors.initials: D
authors.lastname: Stathas
authors.forename: Nikolaos
authors.initials: N
authors.lastname: Kalfakis
authors.forename: Evangelia
authors.initials: E
authors.lastname: Kararizou
authors.forename: Panajota
authors.initials: P
authors.lastname: Manta
mesh_terms: D017209:Apoptosis; D002648:Child; D002675:Child, Preschool; D053938:DNA Fragmentation; D003893:Desmin / Q000032:analysis; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D020287:In Situ Nick-End Labeling; D007223:Infant; D008297:Male; D018485:Muscle Fibers, Skeletal / Q000737:chemistry* / Q000473:pathology; D009134:Muscular Atrophy, Spinal / Q000378:metabolism* / Q000473:pathology; D014746:Vimentin / Q000032:analysis
chemical_list: D003893:Desmin; D014746:Vimentin