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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Detalles Bibliográficos
Autores principales: Salemi, Michele, Ridolfo, Federico, Salluzzo, Maria Grazia, Cannarrella, Rossella, Giambirtone, Mariaconcetta, Caniglia, Salvatore, Tirolo, Cataldo, Ferri, Raffaele, Romano, Corrado
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ivyspring International Publisher 2020
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7053358/
https://www.ncbi.nlm.nih.gov/pubmed/32132866
http://dx.doi.org/10.7150/ijms.39145
Descripción
Sumario: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.

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