From disease modelling to personalised therapy in patients with CEP290 mutations [version 1; referees: 2 approved]

From disease modelling to personalised therapy in patients with CEP290 mutations [version 1; referees: 2 approved]

Blog Article

Mutations that give rise to premature termination codons are a common cause of inherited genetic diseases.When transcripts containing these changes are generated, they are usually rapidly removed by the cell through the flamingo estate pink moon rose process of nonsense-mediated decay.Here we discuss observed changes in transcripts of the centrosomal protein CEP290 resulting not from degradation, but from changes in exon usage.We also comment on a landmark paper (Drivas et al.Sci Transl Med.

2015) where modelling this process of exon usage may be used to predict disease severity shurflo 2088-343-435 in CEP290 ciliopathies, and how understanding this process may potentially be used for therapeutic benefit in the future.