Chronic pro-oxidative state and mitochondrial dysfunctions are more pronounced in fibroblasts from Down syndrome foeti with congenital heart defects. (Articolo in rivista)

Type

• Articolo in rivista (Classe)
• Prodotto della ricerca (Classe)

Label

• Chronic pro-oxidative state and mitochondrial dysfunctions are more pronounced in fibroblasts from Down syndrome foeti with congenital heart defects. (Articolo in rivista) (literal)

Anno

• 2013-01-01T00:00:00+01:00 (literal)

Alternative label

• Piccoli C, Izzo A, Scrima R, Bonfiglio F, Manco R, Negri R, Quarato G, Cela O, Ripoli M, Prisco M, Gentile F, Calì G, Pinton P, Conti A, Nitsch L, Capitanio N. Source (2013)
  Chronic pro-oxidative state and mitochondrial dysfunctions are more pronounced in fibroblasts from Down syndrome foeti with congenital heart defects.
  in Human molecular genetics (Print)
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Piccoli C, Izzo A, Scrima R, Bonfiglio F, Manco R, Negri R, Quarato G, Cela O, Ripoli M, Prisco M, Gentile F, Calì G, Pinton P, Conti A, Nitsch L, Capitanio N. Source (literal)

Rivista

• Human molecular genetics (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• Department of Clinical and Experimental Medicine, University of Foggia, Foggia 71100, Italy. Istituto di Endocrinologia ed Oncologia Sperimentale del CNR c/o Dipartimento di Biologia e Patologia Cellulare e Molecolare, Facoltà di Medicina e Chirurgia di Napoli, Università degli Studi di Napoli Federico II, via Pansini 5, Naples, Italy. (literal)

Titolo

• Chronic pro-oxidative state and mitochondrial dysfunctions are more pronounced in fibroblasts from Down syndrome foeti with congenital heart defects. (literal)

Abstract

• Trisomy of chromosome 21 is associated to congenital heart defects in ~50% of affected newborns. Transcriptome analysis of hearts from trisomic human foeti demonstrated that genes involved in mitochondrial function are globally downregulated with respect to controls, suggesting an impairment of mitochondrial function. We investigated here the properties of mitochondria in fibroblasts from trisomic foeti with and without cardiac defects. Together with the upregulation of Hsa21 genes and the downregulation of nuclear encoded mitochondrial genes, an abnormal mitochondrial cristae morphology was observed in trisomic samples. Furthermore, impairment of mitochondrial respiratory activity, specific inhibition of complex I, enhanced reactive oxygen species production and increased levels of intra-mitochondrial calcium were demonstrated. Seemingly, mitochondrial dysfunction was more severe in fibroblasts from cardiopathic trisomic foeti that presented a more pronounced pro-oxidative state. The data suggest that an altered bioenergetic background in trisomy 21 foeti might be among the factors responsible for a more severe phenotype. Since the mitochondrial functional alterations might be rescued following pharmacological treatments, these results are of interest in the light of potential therapeutic interventions. (literal)

Prodotto di

• Institute Experimental Endocrinology and Oncology \"Gaetano Salvatore\" (IEOS) (Istituto)
• Ruolo del fattore di trascrizione PAX8 nella proliferazione e nella sopravvivenza cellulare (SV.P15.001.003) (Modulo)

Autore CNR

• FLAVIANA GENTILE (Unità di personale interno)
• GAETANO CALI' (Unità di personale interno)

Incoming links:

Autore CNR di

• GAETANO CALI' (Unità di personale interno)
• FLAVIANA GENTILE (Unità di personale interno)

Prodotto

• Institute Experimental Endocrinology and Oncology \"Gaetano Salvatore\" (IEOS) (Istituto)
• Ruolo del fattore di trascrizione PAX8 nella proliferazione e nella sopravvivenza cellulare (SV.P15.001.003) (Modulo)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Human molecular genetics (Rivista)