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DOES EVERYONE HAVE THE SAME MUTATION?
One characteristic of IP is the variability of the severity and of the symptoms of the disorder. Prior to the identification of the NEMO gene defect, this was expected to be due to different mutations present in different families. We now know that about 70% of families have the same mutation. Some variation in the disease is explained by different mutations (many of which have been recently identified), however this is not the whole explanation. With the identification of the gene, it will be possible to begin to understand the reasons for such variability in the disease.

AFTER ALL THE MUTATIONS HAVE BEEN UNCOVERED WHAT IS THE NEXT STEP?

Investigate whether NEMO has additional functions beyond those we currently know;

Determine which genes are misregulated (over- or under-expressed) by the loss of normal NEMO function

Study the consequences of alterations on the expression and function of these secondary genes. This would lead to possible therapeutic approaches.

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