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

Research Paper

Humanin gene expression in fibroblast of Down syndrome subjects

Michele Salemi1✉, Federico Ridolfo2, Maria Grazia Salluzzo1, Rossella Cannarrella3, Mariaconcetta Giambirtone1, Salvatore Caniglia1, Cataldo Tirolo1, Raffaele Ferri1, Corrado Romano1

1. Oasi Research Institute-IRCCS, Troina (EN), Italy.
2. UOSD of Clinical Pathology, ASUR Marche -AV2, Hospital of Senigallia, Senigallia, Italy.
3. Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.

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Salemi M, Ridolfo F, Salluzzo MG, Cannarrella R, Giambirtone M, Caniglia S, Tirolo C, Ferri R, Romano C. Humanin gene expression in fibroblast of Down syndrome subjects. Int J Med Sci 2020; 17(3):320-324. doi:10.7150/ijms.39145. Available from

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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.

Keywords: Down syndrome, Intellectual Disability, Expression, Humanin gene, Immunofluorescence, qRT-PCR.