BERTERO LAB
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Heart Disease

We study the pathogenic mechanisms of cardiac disease due to mutation in nuclear factors, 
​with the hope to identify novel therapeutic targets
Ongoing Projects

We are studying the effect of different kinds of lamin A/C mutations on chromatin compartmentalization and function, and testing the pathogenic role of candidate disease mediators
Earlier Contributions

We performed disease modelling experiments using hiPSC-CMs from patients with cardiac laminopathy, a dilated cardiomyopathy with severe conduction disease due to mutations in LMNA, which encodes for the nuclear intermediate filament proteins Lamin A/C. We specifically tested the so-called “chromatin hypothesis”, which postulates that laminopathy is driven by alterations in gene expression that are due to aberrant chromatin compartmentalization. We examined the effect of a lamin A/C haploinsufficient mutation, revealing that this markedly alters electrophysiology, contractility, gene expression, and chromosomal topology. Contrary to expectations, however, changes in chromatin compartments involved just few regions, and most dysregulated genes lie outside these hotspots. Exception included the gene encoding for neuronal P/Q-type calcium channel CACNA1A, whose current contributes to the electrophysiological abnormalities in hiPSC-CMs. We also contributed to a project which examined the effect of a lamin A/C missense mutation, which we demonstrated to induce selective epigenetic silencing of the fast sodium channel gene SCN5A and thus aberrant action potential generation and propagation.

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  • Home
  • Research
    • Chromatin biology
    • Heart Development
    • Heart Disease
    • Tech Dev
    • Cellular agriculture
  • Publications
    • Preprints
    • Primary Research
    • Reviews et al
    • Dissertations
    • Patents
  • Resources
    • OPTiKD
    • OPTiKO
  • Team
  • Contact
  • Join us