Chapter title |
Morpholino-Mediated Exon Skipping Targeting Human ACVR1/ALK2 for Fibrodysplasia Ossificans Progressiva
|
---|---|
Chapter number | 32 |
Book title |
Exon Skipping and Inclusion Therapies
|
Published in |
Methods in molecular biology, January 2018
|
DOI | 10.1007/978-1-4939-8651-4_32 |
Pubmed ID | |
Book ISBNs |
978-1-4939-8650-7, 978-1-4939-8651-4
|
Authors |
Maruyama, Rika, Yokota, Toshifumi, Rika Maruyama, Toshifumi Yokota |
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. |
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