Hamurcu Zuhal, Demirtas Halil, Kumandas Sefer
Department of Medical Biology, Medical Faculty, Erciyes University, 38039 Kayseri, Turkey.
Cytometry B Clin Cytom. 2006 Jan;70(1):24-8. doi: 10.1002/cyto.b.20077.
Trisomy 21 or Down syndrome (DS) is the most common genetic cause of mental retardation associated with the immunologic and other known defects. Extra chromosome 21 of DS patients contains an average of 40 extra copies of rRNA genes and the in vivo regulation of these genes' activity is not known. Because over 80% of total cellular RNA is rRNA, the measurement of total cellular RNA provides information on rRNA content. The aim of this work was to determine whether or not the additional chromosome 21 causes any increase in total cellular RNA content in mononuclear cells from peripheral blood (PBMNCs) of these patients and whether or not this content is modified with age.
PBMNCs of 48 patients with DS and 48 healthy controls were studied. RNA content of isolated PBMNCs was evaluated by flow cytometric measurements.
Average RNA content of younger DS patients' cells was significantly higher than that of healthy controls (P=0.003). Furthermore, the RNA content decreased significantly with increasing age of DS patients (r=-0.377, P=0.008) in the range of 0-26 year old, whereas no significant relationship was found between age and PBMNCs' RNA content of healthy controls in the same range of ages.
RNA content of PBMNCs from DS patients decreases rapidly with age. This is the first work on the age-dependent decrease of the RNA content in PBMNCs of DS patients.
21三体综合征或唐氏综合征(DS)是与免疫及其他已知缺陷相关的智力发育迟缓最常见的遗传病因。DS患者额外的21号染色体平均含有40个额外的rRNA基因拷贝,这些基因活性的体内调节尚不清楚。由于细胞总RNA的80%以上是rRNA,细胞总RNA的测量可提供rRNA含量的信息。本研究的目的是确定额外的21号染色体是否会导致这些患者外周血单个核细胞(PBMNCs)中细胞总RNA含量增加,以及该含量是否随年龄而改变。
研究了48例DS患者和48例健康对照者的PBMNCs。通过流式细胞术测量评估分离的PBMNCs的RNA含量。
年轻DS患者细胞的平均RNA含量显著高于健康对照者(P = 0.003)。此外,在0至26岁范围内,DS患者的RNA含量随年龄增长显著下降(r = -0.377,P = 0.008),而在相同年龄范围内,健康对照者的年龄与PBMNCs的RNA含量之间未发现显著关系。
DS患者PBMNCs的RNA含量随年龄迅速下降。这是关于DS患者PBMNCs中RNA含量随年龄下降的首次研究。