Publications by authors named "Guendalina Bergonzoni"

Article Synopsis
  • Circular RNA (circRNA) is important for brain development and disorders, especially in Huntington's disease (HD).
  • Researchers found a specific circRNA from the HD gene, which is most common in the brain and changes with the size of a DNA repeat in people and mice with HD.
  • Although this circRNA doesn’t seem to make proteins in adult mouse brains, it might help regulate protein production and improve some problems caused by HD in brain cells.
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Alternative splicing (AS) appears to be altered in Huntington's disease (HD), but its significance for early, pre-symptomatic disease stages has not been inspected. Here, taking advantage of Htt CAG knock-in mouse in vitro and in vivo models, we demonstrate a correlation between Htt CAG repeat length and increased aberrant linear AS, specifically affecting neural progenitors and, in vivo, the striatum prior to overt behavioral phenotypes stages. Remarkably, a significant proportion (36%) of the aberrantly spliced isoforms are not-functional and meant to non-sense mediated decay (NMD).

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Whether as a cause or a symptom, RNA transcription is recurrently altered in pathologic conditions. This is also true for non-coding RNAs, with regulatory functions in a variety of processes such as differentiation, cell identity and metabolism. In line with their increasingly recognized roles in cellular pathways, RNAs are also currently evaluated as possible disease biomarkers.

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Huntington's disease (HD) is a devastating neurodegenerative disorder caused by an aberrant expansion of the CAG tract within the exon 1 of the gene, . HD progressively impairs motor and cognitive capabilities, leading to a total loss of autonomy and ultimate death. Currently, no cure or effective treatment is available to halt the disease.

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