Journal article
Splice correction therapies for familial hypercholesterolemic patients with low-density lipoprotein receptor mutations
Current Opinion in Lipidology, Vol.32(6), pp.355-362
2021
Abstract
Purpose of review
Antisense oligomers (ASOs) have been available for decades: however, only recently have these molecules been applied clinically. This review aims to discuss the possible development of antisense-mediated splice correction therapies as precision medicines for familial hypercholesterolemic patients carrying mutations that compromise normal splicing of the low-density lipoprotein receptor (LDLR) gene transcript.
Recent findings
Three antisense drugs are currently being assessed in ongoing clinical trials for dyslipidemias, aiming to lower the plasma concentrations of lipoproteins that lead to end-organ damage, principally coronary artery disease. Although a handful of drugs may be applicable to many patients with familial hypercholesterolemia (FH), mutation-specific personalised antisense drugs may be even more effective in selected patients. Currently, there is no therapy that effectively addresses mutations in the LDLR, the major cause of FH. Many mutations in the LDLR that disrupt normal pre-mRNA processing could be applicable to splice correction therapy to restore receptor activity.
Summary
Precision medicine could provide long-term economic and social benefits if they can be implemented effectively and sustainably. Many mutations found in the LDLR gene could be amendable to therapeutic splice correction and we should consider developing a therapeutic ASO platform for these mutations.
Details
- Title
- Splice correction therapies for familial hypercholesterolemic patients with low-density lipoprotein receptor mutations
- Authors/Creators
- C.S. McIntosh (Author/Creator)G.F. Watts (Author/Creator)S.D. Wilton (Author/Creator)M.T. Aung-Htut (Author/Creator)
- Publication Details
- Current Opinion in Lipidology, Vol.32(6), pp.355-362
- Publisher
- Wolters Kluwer
- Identifiers
- 991005541951007891
- Copyright
- © 2021 The Author(s).
- Murdoch Affiliation
- Centre for Molecular Medicine and Innovative Therapeutics; Health Futures Institute
- Language
- English
- Resource Type
- Journal article
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- Collaboration types
- Domestic collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.68 Lipids
- 1.68.69 Lipoprotein Metabolism
- Web Of Science research areas
- Biochemistry & Molecular Biology
- Endocrinology & Metabolism
- Peripheral Vascular Disease
- ESI research areas
- Clinical Medicine