Spinal muscular atrophy: DNA fragmentation and immaturity of muscle fibers

Stathas, D; Kalfakis, N; Kararizou, E; Manta, P

dc.contributor.author	Stathas, D	en
dc.contributor.author	Kalfakis, N	en
dc.contributor.author	Kararizou, E	en
dc.contributor.author	Manta, P	en
dc.date.accessioned	2014-03-01T01:57:36Z
dc.date.available	2014-03-01T01:57:36Z
dc.date.issued	2008	en
dc.identifier.issn	0065-1281	en
dc.identifier.uri	https://dspace.lib.ntua.gr/xmlui/handle/123456789/28450
dc.subject	apoptosis	en
dc.subject	DNA fragmentation	en
dc.subject	spinal muscular atrophy	en
dc.subject	desmin	en
dc.subject	vimentin	en
dc.subject.classification	Cell Biology	en
dc.subject.other	APOPTOSIS INHIBITORY PROTEIN	en
dc.subject.other	CELL-DEATH	en
dc.subject.other	PATHOGENETIC MECHANISM	en
dc.subject.other	SMA PATIENTS	en
dc.subject.other	INFANTILE	en
dc.subject.other	EXPRESSION	en
dc.subject.other	GENE	en
dc.title	Spinal muscular atrophy: DNA fragmentation and immaturity of muscle fibers	en
heal.type	journalArticle	en
heal.language	English	en
heal.publicationDate	2008	en
heal.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. (C) 2007 Elsevier GmbH. All rights reserved.	en
heal.publisher	ELSEVIER GMBH, URBAN & FISCHER VERLAG	en
heal.journalName	ACTA HISTOCHEMICA	en
dc.identifier.isi	ISI:000253237700007	en
dc.identifier.volume	110	en
dc.identifier.issue	1	en
dc.identifier.spage	53	en
dc.identifier.epage	58	en