AS and Health (Education)

Alternative Splicing and Health

Image of a stethoscope

With so many genes undergoing alternative splicing in such intricate and controlled ways it is not surprising that when things go wrong with splicing, diseases can occur. This can either be a mutation in a specific gene which changes the normal splicing or mutations which affect splicing of many genes.

About 15% of mutations connected with disease affect splicing.

Alternative Splicing when it is altered can cause: