Campos Carlos, Casado Ángela
Department of Cellular & Molecular Medicine, Centre for Biological Research - Spanish National Research Council (CIB-CSIC), Madrid, Spain.
Indian J Med Res. 2015 Aug;142(2):113-9. doi: 10.4103/0971-5916.164218.
Down syndrome (DS) is one of the most common chromosomal disorders, occurring in one out of 700-1000 live births, and the most common cause of mental retardation. Thyroid dysfunction is the most typical endocrine abnormality in patients with DS. It is well known that thyroid dysfunction is highly prevalent in children and adults with DS and that both hypothyroidism and hyperthyroidism are more common in patients with DS than in the general population. Increasing evidence has shown that DS individuals are under unusual increased oxidative stress, which may be involved in the higher prevalence and severity of a number of pathologies associated with the syndrome, as well as the accelerated ageing observed in these individuals. The gene for Cu/Zn superoxide dismutase (SOD1) is coded on chromosome 21 and it is overexpressed (~50%) resulting in an increase of reactive oxygen species (ROS) due to overproduction of hydrogen peroxide (H 2 O 2 ). ROS leads to oxidative damage of DNA, proteins and lipids, therefore, oxidative stress may play an important role in the pathogenesis of DS.
唐氏综合征(DS)是最常见的染色体疾病之一,在700 - 1000例活产婴儿中就有1例发生,也是智力发育迟缓最常见的原因。甲状腺功能障碍是DS患者最典型的内分泌异常。众所周知,甲状腺功能障碍在患有DS的儿童和成人中非常普遍,并且甲状腺功能减退和甲状腺功能亢进在DS患者中比在普通人群中更常见。越来越多的证据表明,DS个体承受着异常增加的氧化应激,这可能与该综合征相关的许多病症的较高患病率和严重程度有关,以及在这些个体中观察到的加速衰老有关。铜/锌超氧化物歧化酶(SOD1)基因在21号染色体上编码,并且它过度表达(约50%),由于过氧化氢(H₂O₂)的过量产生导致活性氧(ROS)增加。ROS导致DNA、蛋白质和脂质的氧化损伤,因此,氧化应激可能在DS的发病机制中起重要作用。