Alternative Splicing and Disease

Image of a stethoscope

More than two thirds of the human protein-coding genes undergo alternative splicing, thus changes and misregulation of this mechanism can have severe effects and cause diseases.

About 15% of mutations connected with disease affect splicing.

Mutations completely impeding the splicing event cause severe disease patterns due to the lack of the correct gene product.

Mutations disturbing regulatory pathways lead to the appearance of misspliced gene products causing milder but more varied courses of disease.