Title: All our knowledge begins with the antisenses
Affiliation: University of Pennsylvania, Philadelphia, USA
Authors: Ethan M. Goldberg
Reference: J Clin Invest 2021; 131(23):e155233
We thank Dr David Cunnington for providing us with a summary of their work.
Summary: This editorial provides a great, up to date summary of antisense oligonucleotides (ASOs) and their role in the treatment of genetic epilepsies such as SCN2A.
Editorials allow an expert in the field to summarise current research in a particular area and how new research adds to knowledge. Because it is a summary put together by an expert reading this editorial will bring you up to date with what ASOs are and their role in treating SCN2A.
Unlike medications used to treat symptoms of SCN2A such as anti-epileptics for seizures, ASOs are a precision, gene-based treatment that directly target the specific abnormality. In the case of SCN2A, the ASO described by Li et al acts to reduce SCN2A mRNA and Nav1.2 protein which are what cause all of the symptoms and problems seen in SCN2A gain of function.
Specific, precision treatments like ASOs offer great promise for the treatment of rare genetic disorders, particularly those caused by a single gene mutation such as SCN2A. Targeting the specific defect has the potential to treat all of the symptoms and abnormalities common in SCN2A such as seizures, autism, intellectual disability, gastrointestinal symptoms and sleep disturbance, rather than just treating a single issue as is the case with currently available medication.