title: Altered expression of cyclin A 1 in muscle of patients with facioscapulohumeral muscle dystrophy (FSHD-1).
abstract: OBJECTIVE
  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.
authors.affiliation: Experimental and Clinical Research Center, a joint co-operation of Charité University Medicine and Max-Delbrück Center for Molecular Medicine, Franz-Volhard Center for Clinical Research, Berlin, Germany.
authors.forename: Anna
authors.initials: A
authors.lastname: Pakula
authors.forename: Joanna
authors.initials: J
authors.lastname: Schneider
authors.forename: Jürgen
authors.initials: J
authors.lastname: Janke
authors.forename: Ute
authors.initials: U
authors.lastname: Zacharias
authors.forename: Herbert
authors.initials: H
authors.lastname: Schulz
authors.forename: Norbert
authors.initials: N
authors.lastname: Hübner
authors.forename: Anja
authors.initials: A
authors.lastname: Mähler
authors.forename: Andreas
authors.initials: A
authors.lastname: Spuler
authors.forename: Simone
authors.initials: S
authors.lastname: Spuler
authors.forename: Pierre
authors.initials: P
authors.lastname: Carlier
authors.forename: Michael
authors.initials: M
authors.lastname: Boschmann
mesh_terms: D001706:Biopsy; D016022:Case-Control Studies; D019925:Cyclin A / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D060888:Real-Time Polymerase Chain Reaction; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D019925:Cyclin A
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