Alternative splicing and tumor

The research group of Dr. Claudia Ghigna (Institute of Molecular Genetics of the National Research Council, CNR-IGM of Pavia) supported by the AIRC-Italian Cancer Research Association and in collaboration with the group of Dr. Ugo Cavallaro (IEO of Milan) showed that in the blood vessels of the ovarian tumor, one of the most common causes of death from cancer in the female population between 50 and 69 years, is present a new variant of the L1 protein. This variant (called L1-deltaTM) was generated through an important molecular mechanism, the alternative splicing. To drive the splicing machinery in forming the L1-deltaTM protein is the NOVA2 factor, which was believed to be present exclusively in the brain, but instead the group of Dr. Ghigna showed to be expressed also in the cells of blood vessels. NOVA2 has an altered expression in the blood vessels of the ovarian cancer while it is absent or is expressed at low levels in the vasculature of healthy tissues. Another important aspect of the research is that, unlike the classical form of the protein, L1-deltaTM is not found on the surface of tumor vasculature, but is released directly into the bloodstream and can act on adjacent cells by activating the formation of new vessels. This process, known as angiogenesis, supports the progression of neoplasia, since it provides the cancer cells with oxygen and other nutrients essential for their growth and an escape route to form metastases in other organs ".
The study, just published in the scientific journal eLife, can be useful to clarify fundamental processes that support tumor growth, but also to open new perspectives in the clinical field: L1-deltaTM could be exploitable both as a non-invasive marker of tumor angiogenesis and as new therapeutic target.