• Int J Med Sci · Jan 2020

    Humanin gene expression in fibroblast of Down syndrome subjects.

    • Michele Salemi, Federico Ridolfo, Maria Grazia Salluzzo, Rossella Cannarrella, Mariaconcetta Giambirtone, Salvatore Caniglia, Cataldo Tirolo, Raffaele Ferri, and Corrado Romano.
    • Oasi Research Institute-IRCCS, Troina (EN), Italy.
    • Int J Med Sci. 2020 Jan 1; 17 (3): 320-324.

    AbstractDown 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.© The author(s).

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