Humanin gene expression in fibroblast of Down syndrome subjects.
Down syndrome
Expression
Humanin gene
Immunofluorescence
Intellectual Disability
qRT-PCR.
Journal
International journal of medical sciences
ISSN: 1449-1907
Titre abrégé: Int J Med Sci
Pays: Australia
ID NLM: 101213954
Informations de publication
Date de publication:
2020
2020
Historique:
received:
08
08
2019
accepted:
12
12
2019
entrez:
6
3
2020
pubmed:
7
3
2020
medline:
5
1
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 32132866
doi: 10.7150/ijms.39145
pii: ijmsv17p0320
pmc: PMC7053358
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
320-324Informations de copyright
© The author(s).
Déclaration de conflit d'intérêts
Competing Interests: The authors have declared that no competing interest exists.
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