Piccoli 2013 Hum Mol Genet: Difference between revisions
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{{Publication | {{Publication | ||
|title=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 (2013) Chronic pro-oxidative state and mitochondrial dysfunctions are more pronounced in fibroblasts from Down syndrome foeti with congenital heart defects. Hum Mol Genet 22:1218-32. | |title=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 (2013) Chronic pro-oxidative state and mitochondrial dysfunctions are more pronounced in fibroblasts from Down syndrome foeti with congenital heart defects. Hum Mol Genet 22:1218-32. | ||
|info=[http://www.ncbi.nlm.nih.gov/pubmed/23257287 PMID: 23257287] | |info=[http://www.ncbi.nlm.nih.gov/pubmed/23257287 PMID: 23257287 Open Access] | ||
|authors=Piccoli C, Izzo A, Scrima R, Bonfiglio F, Manco R, Negri R, Quarato G, Cela O, Ripoli M, Prisco M, Gentile F, Cali G, Pinton P, Conti A, Nitsch L, Capitanio N | |authors=Piccoli C, Izzo A, Scrima R, Bonfiglio F, Manco R, Negri R, Quarato G, Cela O, Ripoli M, Prisco M, Gentile F, Cali G, Pinton P, Conti A, Nitsch L, Capitanio N | ||
|year=2013 | |year=2013 | ||
|journal=Hum Mol Genet | |journal=Hum Mol Genet | ||
|abstract=Trisomy of chromosome 21 is associated to congenital heart defects in βΌ50% 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. | |abstract=Trisomy of chromosome 21 is associated to congenital heart defects in βΌ50% 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. | ||
|keywords=Down syndrome, | |keywords=Down syndrome, Congenital heart defect | ||
|mipnetlab=IT Foggia Capitanio N | |mipnetlab=IT Foggia Capitanio N | ||
}} | }} | ||
{{Labeling | {{Labeling | ||
|area=Respiration, mt-Structure;fission;fusion, mt-Medicine, Patients | |area=Respiration, mt-Structure;fission;fusion, mt-Medicine, Patients | ||
|diseases=Other | |||
|injuries=Oxidative stress;RONS | |||
|organism=Human | |organism=Human | ||
| | |tissues=Fibroblast | ||
|enzymes=Complex I | |enzymes=Complex I | ||
|topics=Calcium | |topics=Calcium | ||
}} | }} |
Latest revision as of 15:45, 9 November 2016
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 (2013) Chronic pro-oxidative state and mitochondrial dysfunctions are more pronounced in fibroblasts from Down syndrome foeti with congenital heart defects. Hum Mol Genet 22:1218-32. |
Piccoli C, Izzo A, Scrima R, Bonfiglio F, Manco R, Negri R, Quarato G, Cela O, Ripoli M, Prisco M, Gentile F, Cali G, Pinton P, Conti A, Nitsch L, Capitanio N (2013) Hum Mol Genet
Abstract: Trisomy of chromosome 21 is associated to congenital heart defects in βΌ50% 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. β’ Keywords: Down syndrome, Congenital heart defect
β’ O2k-Network Lab: IT Foggia Capitanio N
Labels: MiParea: Respiration, mt-Structure;fission;fusion, mt-Medicine, Patients
Pathology: Other
Stress:Oxidative stress;RONS
Organism: Human
Tissue;cell: Fibroblast
Enzyme: Complex I Regulation: Calcium