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.
PLoS One. 2013 Sep 3;8(9):e73573. doi: 10.1371/journal.pone.0073573. eCollection 2013.
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).
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.
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.
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.
细胞周期蛋白 A1 调节体细胞和生殖细胞的细胞周期活性和增殖。它在 G1/S 期表达增加，并在 G2 和 M 期达到最大值。细胞周期蛋白 A1 表达的改变可能导致面肩肱型肌营养不良症（FSHD）的临床症状。
从股外侧肌取肌肉活检，进行 cDNA 微阵列、RT-PCR、免疫组织化学和 Western blot 分析，以评估细胞周期蛋白 A1 在人类肌肉细胞系和肌肉组织中的 RNA 和蛋白表达。在冷冻切片上计算肌纤维直径以测试肥大。
cDNA 微阵列数据显示，与其他肌肉疾病（如 caveolinopathy、dysferlinopathy、四半 LIM 结构域蛋白 1 缺乏症和健康对照组）相比，FSHD 中细胞周期蛋白 A1 水平特异性升高。RT-PCR 和 Western blot 分析可以证实数据，表明细胞周期蛋白 A1 水平也在蛋白水平上调。我们还在 FSHD-1 患者的股外侧肌中发现了明显的肥大迹象。
在大多数人体体细胞系中，细胞周期蛋白 A1 水平较低。FSHD 中细胞周期蛋白 A1 的过度表达表明 FSHD 中的细胞周期失调，可能导致该疾病的临床症状。
