Work

Targeting rare splicing defects: Antisense oligonucleotides offer a therapeutic strategy in FRDA

Year: 2025

Type: article

Abstract: Friedreich’s ataxia (FRDA) is an autosomal recessive, multisystem disorder caused by mutations in the FXN gene, progressively affecting the nervous system, heart, and other organs.1 A recent study published in Molecular Therapy Nucleic Acids by Yameogo et al. describes a novel, intronic point mutation that disrupts canonical splicing and severely reduces FXN mRNA and frataxin protein levels.2 Using patient-derived cells, the authors demonstrated that antisense oligonucleotides (ASOs) targeting splicing regulatory elements effectively restore splicing deficits and increase frataxin expression.

Source: Molecular Therapy — Nucleic Acids

DOI: 10.1016/j.omtn.2025.102723

Authors: Laurie M.C. Kerkhof, Ronald A.M. Buijsen

Institution: Leiden University Medical Center

Language: English

Topic: Genetic Neurodegenerative Diseases

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,900