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Morpholino-Mediated Exon Skipping Targeting Human ACVR1/ALK2 for Fibrodysplasia Ossificans Progressiva
- Source :
- Methods in Molecular Biology ISBN: 9781493986507
- Publication Year :
- 2018
- Publisher :
- Springer New York, 2018.
-
Abstract
- Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal-dominant disorder characterized by progressive heterotopic ossification. More than 95% of cases are caused by a recurrent mutation (617G>A; R206H) of ACVR1/ALK2, a bone morphogenetic protein (BMP) type I receptor. Recent studies revealed that ACVR1R206H induces heterotopic ossification by aberrant activation in response to activin A. Because ACVR1R206H is a hyperactive receptor, a promising therapeutic strategy is to decrease the activity of ACVR1 in patients. Here, we describe a method to reduce ACVR1 expression in FOP patient cells by exon skipping in ACVR1 mRNAs using phosphorodiamidate morpholino oligomers (PMOs). This strategy can be applied to the screen to select antisense oligomers to knockdown not only ACVR1 but also genes which cause other autosomal-dominant genetic diseases.
- Subjects :
- 0301 basic medicine
Gene knockdown
Morpholino
business.industry
ACVR1
medicine.disease
Palovarotene
Bone morphogenetic protein
Exon skipping
03 medical and health sciences
030104 developmental biology
Fibrodysplasia ossificans progressiva
medicine
Cancer research
Heterotopic ossification
business
Subjects
Details
- ISBN :
- 978-1-4939-8650-7
- ISBNs :
- 9781493986507
- Database :
- OpenAIRE
- Journal :
- Methods in Molecular Biology ISBN: 9781493986507
- Accession number :
- edsair.doi...........1c252f9dae6b822d5726e10e9f8cb71d