Altered expression of cyclin A 1 in muscle of patients with facioscapulohumeral muscle dystrophy (FSHD-1).

<h4>Objectives</h4>Cyclin A1 regulates cell cycle activity and proliferation in somatic and germ-line cells. Its expression increases in G1/S phase and reaches a maximum in G2 and M phases. Altered cyclin A1 expression might contribute to clinical symptoms in facioscapulohumeral muscular...

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Autores principales:	Anna Pakula, Joanna Schneider, Jürgen Janke, Ute Zacharias, Herbert Schulz, Norbert Hübner, Anja Mähler, Andreas Spuler, Simone Spuler, Pierre Carlier, Michael Boschmann
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2013
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/0002c5a08ef04b899b2c07c897e41d22
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spelling	oai:doaj.org-article:0002c5a08ef04b899b2c07c897e41d222021-11-18T08:57:11ZAltered expression of cyclin A 1 in muscle of patients with facioscapulohumeral muscle dystrophy (FSHD-1).1932-620310.1371/journal.pone.0073573https://doaj.org/article/0002c5a08ef04b899b2c07c897e41d222013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24019929/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Objectives</h4>Cyclin A1 regulates cell cycle activity and proliferation in somatic and germ-line cells. Its expression increases in G1/S phase and reaches a maximum in G2 and M phases. Altered cyclin A1 expression might contribute to clinical symptoms in facioscapulohumeral muscular dystrophy (FSHD).<h4>Methods</h4>Muscle biopsies were taken from the Vastus lateralis muscle for cDNA microarray, RT-PCR, immunohistochemistry and Western blot analyses to assess RNA and protein expression of cyclin A1 in human muscle cell lines and muscle tissue. Muscle fibers diameter was calculated on cryosections to test for hypertrophy.<h4>Results</h4>cDNA microarray data showed specifically elevated cyclin A1 levels in FSHD vs. other muscular disorders such as caveolinopathy, dysferlinopathy, four and a half LIM domains protein 1 deficiency and healthy controls. Data could be confirmed with RT-PCR and Western blot analysis showing up-regulated cyclin A1 levels also at protein level. We found also clear signs of hypertrophy within the Vastus lateralis muscle in FSHD-1 patients.<h4>Conclusions</h4>In most somatic human cell lines, cyclin A1 levels are low. Overexpression of cyclin A1 in FSHD indicates cell cycle dysregulation in FSHD and might contribute to clinical symptoms of this disease.Anna PakulaJoanna SchneiderJürgen JankeUte ZachariasHerbert SchulzNorbert HübnerAnja MählerAndreas SpulerSimone SpulerPierre CarlierMichael BoschmannPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 9, p e73573 (2013)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Anna Pakula Joanna Schneider Jürgen Janke Ute Zacharias Herbert Schulz Norbert Hübner Anja Mähler Andreas Spuler Simone Spuler Pierre Carlier Michael Boschmann Altered expression of cyclin A 1 in muscle of patients with facioscapulohumeral muscle dystrophy (FSHD-1).
description	<h4>Objectives</h4>Cyclin A1 regulates cell cycle activity and proliferation in somatic and germ-line cells. Its expression increases in G1/S phase and reaches a maximum in G2 and M phases. Altered cyclin A1 expression might contribute to clinical symptoms in facioscapulohumeral muscular dystrophy (FSHD).<h4>Methods</h4>Muscle biopsies were taken from the Vastus lateralis muscle for cDNA microarray, RT-PCR, immunohistochemistry and Western blot analyses to assess RNA and protein expression of cyclin A1 in human muscle cell lines and muscle tissue. Muscle fibers diameter was calculated on cryosections to test for hypertrophy.<h4>Results</h4>cDNA microarray data showed specifically elevated cyclin A1 levels in FSHD vs. other muscular disorders such as caveolinopathy, dysferlinopathy, four and a half LIM domains protein 1 deficiency and healthy controls. Data could be confirmed with RT-PCR and Western blot analysis showing up-regulated cyclin A1 levels also at protein level. We found also clear signs of hypertrophy within the Vastus lateralis muscle in FSHD-1 patients.<h4>Conclusions</h4>In most somatic human cell lines, cyclin A1 levels are low. Overexpression of cyclin A1 in FSHD indicates cell cycle dysregulation in FSHD and might contribute to clinical symptoms of this disease.
format	article
author	Anna Pakula Joanna Schneider Jürgen Janke Ute Zacharias Herbert Schulz Norbert Hübner Anja Mähler Andreas Spuler Simone Spuler Pierre Carlier Michael Boschmann
author_facet	Anna Pakula Joanna Schneider Jürgen Janke Ute Zacharias Herbert Schulz Norbert Hübner Anja Mähler Andreas Spuler Simone Spuler Pierre Carlier Michael Boschmann
author_sort	Anna Pakula
title	Altered expression of cyclin A 1 in muscle of patients with facioscapulohumeral muscle dystrophy (FSHD-1).
title_short	Altered expression of cyclin A 1 in muscle of patients with facioscapulohumeral muscle dystrophy (FSHD-1).
title_full	Altered expression of cyclin A 1 in muscle of patients with facioscapulohumeral muscle dystrophy (FSHD-1).
title_fullStr	Altered expression of cyclin A 1 in muscle of patients with facioscapulohumeral muscle dystrophy (FSHD-1).
title_full_unstemmed	Altered expression of cyclin A 1 in muscle of patients with facioscapulohumeral muscle dystrophy (FSHD-1).
title_sort	altered expression of cyclin a 1 in muscle of patients with facioscapulohumeral muscle dystrophy (fshd-1).
publisher	Public Library of Science (PLoS)
publishDate	2013
url	https://doaj.org/article/0002c5a08ef04b899b2c07c897e41d22
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Altered expression of cyclin A 1 in muscle of patients with facioscapulohumeral muscle dystrophy (FSHD-1).

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