IISc sci­en­tists iden­tify gene mu­ta­tion linked to brain tu­mour

BioSpectrum (India) - - SCIENCE NEWS -

A group of re­searchers at the In­dian In­sti­tute of Sci­ence (IISc), Bengaluru, has un­cov­ered a pre­vi­ously un­known gene mu­ta­tion that is linked to a highly ag­gres­sive form of a brain tu­mour called glioblas­toma. The study has been car­ried out in col­lab­o­ra­tion with sci­en­tists at the

All In­dia In­sti­tute of Med­i­cal Sciences (AIIMS), New Delhi. Glioblas­toma is the dead­li­est and most com­mon form of brain cancer in adults. It rep­re­sents the fi­nal stage (grade IV) of a lethal cancer called as­tro­cy­toma, which arises in star-shaped sup­port­ing cells in the brain and spinal cord called as­tro­cytes. To iden­tify changes in genes, the team an­a­lysed the en­tire ge­netic ma­te­rial from 42 In­dian pa­tients with var­i­ous stages of as­tro­cy­toma, and from the world­wide cancer genome at­las. Ini­tially, they found sev­eral mu­ta­tions re­ported pre­vi­ously. On fur­ther in­ves­ti­gat­ing, they found a spe­cific path­way con­sist­ing of sig­nalling mol­e­cules and re­cep­tors, which wasn’t linked to glioblas­toma ear­lier.

This path­way was se­verely mu­tated in a small frac­tion of glioblas­toma pa­tients. A gene called CALCR, which codes for the cal­ci­tonin re­cep­tor, was also found to be ex­cep­tion­ally mu­tated in this path­way, and linked to poor sur­vival.

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