Humanin gene expression in fibroblast of Down syndrome subjects

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 pa...

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Veröffentlicht in:	International journal of medical sciences 2020-01, Vol.17 (3), p.320-324
Hauptverfasser:	Salemi, Michele, Ridolfo, Federico, Salluzzo, Maria Grazia, Cannarrella, Rossella, Giambirtone, Mariaconcetta, Caniglia, Salvatore, Tirolo, Cataldo, Ferri, Raffaele, Romano, Corrado
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Aging Antibodies Apoptosis - genetics Apoptosis - physiology Biopsy Blotting, Western Down syndrome Down Syndrome - genetics Down Syndrome - metabolism Fibroblasts Fibroblasts - metabolism Fluorescent Antibody Technique Gene expression Gene Expression - genetics General & Internal Medicine Humans Life Sciences & Biomedicine Macular degeneration Medicine, General & Internal Mitochondria - metabolism Proteins Research Paper Reverse Transcriptase Polymerase Chain Reaction Science & Technology Software Statistical analysis
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Zusammenfassung:	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.
ISSN:	1449-1907 1449-1907
DOI:	10.7150/ijms.39145