Ribosmoal Protein Causing New Borne Disease Discovered

And article on Science Daily referencing a journal published in sciencemag explains how the protein causing isolated congenital asplenia (ICA) causes this disorder.  This condition is very rare and has be officially documented in less than 100 cases in medical literature.  These scientists sequenced 23 exomes (the part of the genome formed by exons that get transformed into proteins).  After proper testing and filtering, researchers narrowed down to 4,200 possible genes.   Next, researchers hypothesized which exomes would be more likely to house these gene therefore, deciding to focus on ICA exomes.  The gene RPSA responsible for coding for a protein found in the cell’s protein-synthesizing ribosome was found to be the culprit.  Every individual with a coding mutation in this gene is developed with out a spleen.  These results are puzzling because this ribosome is present in every organ in the body but only seems to effect the spleen. 

                This discovery may make it possible to develop new diagnostic test for ICA and lead to more research on this specific protein-making machinery.