唐氏综合征患者成纤维细胞中的人胰岛素基因表达。

Salemi Michele, Ridolfo Federico, Salluzzo Maria Grazia, Cannarrella Rossella, Giambirtone Mariaconcetta, Caniglia Salvatore, Tirolo Cataldo, Ferri Raffaele, Romano Corrado

Oasi Research Institute-IRCCS, Troina (EN), Italy.

UOSD of Clinical Pathology, ASUR Marche -AV2, Hospital of Senigallia, Senigallia, Italy.

Int J Med Sci. 2020 Jan 18;17(3):320-324. doi: 10.7150/ijms.39145. eCollection 2020.

Down syndrome (DS) is characterized by trisomy of chromosome 21 and peculiar phenotype. Humanin (HN) is a mitochondrial short 24-residue polypeptide whit anti-apoptotic and neuroprotective effects. In this study we evaluated HN protein expression and HN mRNA levels in cultured fibroblasts from DS patients and normal controls. Our results obtained by immunocytochemistry, western-blot and qRT-PCR analysis show a significant HN up-regulation in DS patients. These results confirm previous studies and suggest a role for HN may in the DS phenotype.

唐氏综合征（DS）的特征是21号染色体三体性及特殊的表型。人胰岛素（HN）是一种具有抗凋亡和神经保护作用的线粒体短24肽。在本研究中，我们评估了DS患者和正常对照的培养成纤维细胞中HN蛋白表达和HN mRNA水平。通过免疫细胞化学、蛋白质印迹和定量逆转录-聚合酶链反应分析获得的结果显示，DS患者中HN显著上调。这些结果证实了先前的研究，并提示HN可能在DS表型中发挥作用。