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Lucio Nitsch, MD - "Mitochondrial dysfunction in Down syndrome: from molecular mechanisms to therapeutic approaches"

Full Professor of Biology, School of Medicine, University of Naples Federico II
When Apr 18, 2019
from 12:00 PM to 01:30 PM
Where Tigem, Vesuvius Auditorium
Contact Name
Contact Phone 08119230659
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Abstract
By comparing the transcriptome of trisomic and non-trisomic human fetal hearts we discovered that nuclear encoded mitochondrial genes (NEMG) are overall downregulated in the trisomic tissue. We investigated the consequences of NEMG downregulation on the mitochondrial function in trisomic human fetal fibroblasts. We found impairment of the mitochondrial function and disruption of the mitochondrial network organization. We also found that the upregulation of the Hsa21 gene NRIP1/RIP140 is a possible cause of the mitochondrial dysfunction. NRIP1/RIP140 acts as a repressor of the transcriptional coactivator PGC-1α, which is a master controller of protein biogenesis and function. We explored the consequence of the reactivation of the PGC-1α protein by using drugs such as metformin and pioglitazone that act by different mechanisms. Both drugs are able to counteract Down syndrome mitochondrial dysfunction and represent a possible therapeutic approach to generate a better metabolic equilibrium in DS people.

 

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