Therapy development for spinal muscular atrophy: perspectives for muscular dystrophies and neurodegenerative disorders.

ABSTRACT:

Background

Major efforts have been made in the last decade to develop and improve therapies for proximal spinal muscular atrophy (SMA). The introduction of Nusinersen/Spinraza™ as an antisense oligonucleotide therapy, Onasemnogene abeparvovec/Zolgensma™ as an AAV9-based gene therapy and Risdiplam/Evrysdi™ as a small molecule modifier of pre-mRNA splicing have set new standards for interference with neurodegeneration.

Main body

Therapies for SMA are designed to interfere with the cellular basis of the disease by modifying pre-mRNA splicing and enhancing expression of the Survival Motor Neuron (SMN) protein, which is only expressed at low levels in this disorder. The corresponding strategies also can be applied to other disease mechanisms caused by loss of function or toxic ga

SUBMITTER: Jablonka S 

PROVIDER: S-EPMC8725368 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature