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Mutations linked to tumors are hidden in junk DNA

2019-12-10T10:02:24.918Z


Italian discovery opens to increasingly targeted therapies (ANSA)


The so-called 'rubbish' DNA can conceal dangerous mutations that contribute to the development of tumors. This was discovered by researchers at Ceinge-Advanced Biotechnology in Naples, thanks to sophisticated genetic sequencing techniques applied to one of the most aggressive and widespread tumors of the nervous system among children, neuroblastoma. The results, published in the journal Cancer Research, show that the 'rubbish' DNA (Junk Dna, that is the one that does not contain the instructions for producing proteins) is far from useless, indeed it could even guard the roots of those tumors of which still genetic causes have not been discovered.

The study was conducted by the group of Mario Capasso and Achille Iolascon, respectively associate professor and professor of Medical Genetics of the University of Naples Federico II, thanks to the support of the Italian Association for Research against Cancer (Airc), Pediatric Oncology Association and Neuroblastoma (Open) and the Italian Foundation for the Fight against Neuroblastoma.

Precisely this tumor of the peripheral nervous system was examined in 151 patients: their DNA was 'read' in full thanks to the latest generation sequencing methods (Next Generation Sequencing). Then using a new method of bioinformatics analysis (developed by the doctoral student Vito Alessandro Lasorsa) and the public data of the Encode project, the researchers were able to classify the mutations found in the DNA 'garbage' based on their genomic context.


Mutations linked to tumors are hidden in the junk DNA (source: CEINGE)

"Today we know that the portion of the human genome 'Junk' brings with it essential regions for the remote regulation of the function of the genes - explains Iolascon - It seems clear that also mutations in these regions of the genome can have a weight in the development of the cancer" . "This work adds an important element to the knowledge of the 'rubbish' DNA, which in the light of these new results, seems far from being a useless and wasteful element, but a new terrain to be explored", adds Capasso.

"Another important aspect of this study is that the innovative method of DNA analysis used can be applied to other types of cancer and can therefore increase the knowledge of the underlying causes of this devastating disease. Furthermore, new research can, on the basis of these results, to develop new, more targeted and less invasive therapies for those patients suffering from the most aggressive stages and resistant to classical therapies ".

Source: ansa

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