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

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Item Type:Article
Title:Altered expression of cyclin A 1 in muscle of patients with facioscapulohumeral muscle dystrophy (FSHD-1)
Creators Name:Pakula, A. and Schneider, J. and Janke, J. and Zacharias, U. and Schulz, H. and Hübner, N. and Mähler, A. and Spuler, A. and Spuler, S. and Carlier, P. and Boschmann, M.
Abstract:Objectives 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). Methods 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. Results 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. Conclusions 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.
Keywords:Biopsy, Case-Control Studies, Cyclin A, Skeletal Muscle, Facioscapulohumeral Muscular Dystrophy, Oligonucleotide Array Sequence Analysis, Real-Time Polymerase Chain Reaction, Reverse Transcriptase Polymerase Chain Reaction
Source:PLoS ONE
Publisher:Public Library of Science
Page Range:e73573
Date:3 September 2013
Official Publication:https://doi.org/10.1371/journal.pone.0073573
PubMed:View item in PubMed

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