10th Anniversary CCM Scientific Meeting
Domenica 23 Novembre 2014 12:56
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10th Anniversary CCM Scientific MeetingThe 10th Anniversary CCM Scientific Meeting was held on November 6th and 7th, 2014 at the Bethesda North Marriot Hotel and Conference Center, Washington DC (USA).

Nearly 75 attendees with complementary expertise and interests encompassing different research fields, including molecular, cellular and developmental biology, human genetics and genomics, and clinical research, yet focus exclusively on CCM disease, gathered together from the United States, Canada, Italy, France, UK and Brazil to share and discuss the latest research data and to develop new collaborative efforts. Indeed, over the years, numerous research collaborations have developed as a result of the CCM meeting, leading to significant breakthroughs into the molecular mechanisms underlying CCM pathogenesis, and fundamental insights into the development of novel therapeutic strategies.

The 2014 edition offered novel insights into the multiple and complex functions of CCM proteins, the identification of risk factors of diagnostic and prognostic value associated with clinical progression and severity of CCM disease, and the effectiveness of novel compounds and repurposed drugs in rescuing phenotypes associated with the loss-of-function of CCM genes, suggesting new diagnostic options and novel therapeutic strategies for preventing CCM disease progression and severity.

Prof. Retta presenting at the 10th Anniversary CCM Scientific MeetingIn particular, Prof. Francesco Retta reported novel insights into the role of oxidative stress in CCM pathogenesis, which were based on coordinated, collaborative and integrative research approaches involving distinct groups of the CCM_Italia multidisciplinary research network and international cooperation established during previous CCM scientific meetings.

Specifically, the most significant insights reported were the following:

  • The characterization of novel redox-sensitive mechanisms linked to the loss-of-function of CCM genes, which involved several groups of the CCM_Italia multidisciplinary research network and opened a new avenue for the development of better targeted and effective therapeutic strategies for CCM disease.
  • The identification of oxidative stress-related genetic risk factors associated with the most severe phenotypes of CCMHelene Choquet, Francesco Retta, Helen Kim disease (high lesion number and hemorrhagic events), which is the result of an ongoing cooperation with Dr. Helen Kim and Helene Choquet of the Center for Cerebrovascular Research (CCR), University of California, San Francisco, CA (USA). Notably, while raising the possibility that interindividual variability in responses to oxidative stress may contribute to CCM disease pathogenesis, these findings suggest potential risk factors and biomarkers of diagnostic and prognostic value.
  • The demonstration that compounds endowed with antioxidant properties, including a novel phenolic compound of the oat avenanthramide family and two repurposed drugs, cholecalciferol (Vitamin D3) and tempol (a scavenger of superoxide), are effective in rescuing phenotypes associated with the loss-of-function of CCM genes, suggesting potential therapeutic benefits for CCM disease. In particular, the findings that vitamin D3 and tempol can rescue major CCM phenotypes and may be repurposed to treat CCM disease derived from a research cooperation between research groups of the University of Utah (Salt Lake City, UT, USA), coordinated by Prof. Dean Li, and two research units of the CCM_Italia multidisciplinary research network (Torino and L’Aquila) coordinated by Prof. Francesco Retta. These findings support and strengthen the original discovery that oxidative stress may play a critical role in CCM disease (Goitre et al., 2010; Goitre et al., 2012; Goitre et al., 2014), leading to concrete therapeutic perspectives. The relative paper is currently in press and will be soon available online.


Clicca qui per la versione in Italiano.

Ultimo aggiornamento Giovedì 27 Novembre 2014 09:40