Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease
The most common variant causing Pompe disease is c.-32-13T>G (IVS1) in the acid α-glucosidase (GAA) gene, which weakens the splice acceptor of GAA exon 2 and induces partial and complete exon 2 skipping. It also allows a low level of leaky wild-type splicing, leading to a childhood/adult phenotyp...
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| Published in | Molecular therapy. Nucleic acids Vol. 7; no. C; pp. 90 - 100 |
|---|---|
| Main Authors | , , , , |
| Format | Journal Article |
| Language | English |
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United States
Elsevier Inc
16.06.2017
Elsevier Limited American Society of Gene & Cell Therapy Elsevier |
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| Abstract | The most common variant causing Pompe disease is c.-32-13T>G (IVS1) in the acid α-glucosidase (GAA) gene, which weakens the splice acceptor of GAA exon 2 and induces partial and complete exon 2 skipping. It also allows a low level of leaky wild-type splicing, leading to a childhood/adult phenotype. We hypothesized that cis-acting splicing motifs may exist that could be blocked using antisense oligonucleotides (AONs) to promote exon inclusion. To test this, a screen was performed in patient-derived primary fibroblasts using a tiling array of U7 small nuclear RNA (snRNA)-based AONs. This resulted in the identification of a splicing regulatory element in GAA intron 1. We designed phosphorodiamidate morpholino oligomer-based AONs to this element, and these promoted exon 2 inclusion and enhanced GAA enzyme activity to levels above the disease threshold. These results indicate that the common IVS1 GAA splicing variant in Pompe disease is subject to negative regulation, and inhibition of a splicing regulatory element using AONs is able to restore canonical GAA splicing and endogenous GAA enzyme activity. |
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| AbstractList | The most common variant causing Pompe disease is c.-32-13T>G (IVS1) in the acid α-glucosidase (GAA) gene, which weakens the splice acceptor of GAA exon 2 and induces partial and complete exon 2 skipping. It also allows a low level of leaky wild-type splicing, leading to a childhood/adult phenotype. We hypothesized that cis-acting splicing motifs may exist that could be blocked using antisense oligonucleotides (AONs) to promote exon inclusion. To test this, a screen was performed in patient-derived primary fibroblasts using a tiling array of U7 small nuclear RNA (snRNA)-based AONs. This resulted in the identification of a splicing regulatory element in GAA intron 1. We designed phosphorodiamidate morpholino oligomer-based AONs to this element, and these promoted exon 2 inclusion and enhanced GAA enzyme activity to levels above the disease threshold. These results indicate that the common IVS1 GAA splicing variant in Pompe disease is subject to negative regulation, and inhibition of a splicing regulatory element using AONs is able to restore canonical GAA splicing and endogenous GAA enzyme activity. The most common variant causing Pompe disease is c.-32-13T>G (IVS1) in the acid α-glucosidase (GAA) gene, which weakens the splice acceptor of GAA exon 2 and induces partial and complete exon 2 skipping. It also allows a low level of leaky wild-type splicing, leading to a childhood/adult phenotype. We hypothesized that cis-acting splicing motifs may exist that could be blocked using antisense oligonucleotides (AONs) to promote exon inclusion. To test this, a screen was performed in patient-derived primary fibroblasts using a tiling array of U7 small nuclear RNA (snRNA)-based AONs. This resulted in the identification of a splicing regulatory element in GAA intron 1. We designed phosphorodiamidate morpholino oligomer-based AONs to this element, and these promoted exon 2 inclusion and enhanced GAA enzyme activity to levels above the disease threshold. These results indicate that the common IVS1 GAA splicing variant in Pompe disease is subject to negative regulation, and inhibition of a splicing regulatory element using AONs is able to restore canonical GAA splicing and endogenous GAA enzyme activity.The most common variant causing Pompe disease is c.-32-13T>G (IVS1) in the acid α-glucosidase (GAA) gene, which weakens the splice acceptor of GAA exon 2 and induces partial and complete exon 2 skipping. It also allows a low level of leaky wild-type splicing, leading to a childhood/adult phenotype. We hypothesized that cis-acting splicing motifs may exist that could be blocked using antisense oligonucleotides (AONs) to promote exon inclusion. To test this, a screen was performed in patient-derived primary fibroblasts using a tiling array of U7 small nuclear RNA (snRNA)-based AONs. This resulted in the identification of a splicing regulatory element in GAA intron 1. We designed phosphorodiamidate morpholino oligomer-based AONs to this element, and these promoted exon 2 inclusion and enhanced GAA enzyme activity to levels above the disease threshold. These results indicate that the common IVS1 GAA splicing variant in Pompe disease is subject to negative regulation, and inhibition of a splicing regulatory element using AONs is able to restore canonical GAA splicing and endogenous GAA enzyme activity. The most common variant causing Pompe disease is c.-32-13T>G (IVS1) in the acid α-glucosidase (GAA) gene, which weakens the splice acceptor of GAA exon 2 and induces partial and complete exon 2 skipping. It also allows a low level of leaky wild-type splicing, leading to a childhood/adult phenotype. We hypothesized that cis-acting splicing motifs may exist that could be blocked using antisense oligonucleotides (AONs) to promote exon inclusion. To test this, a screen was performed in patient-derived primary fibroblasts using a tiling array of U7 small nuclear RNA (snRNA)-based AONs. This resulted in the identification of a splicing regulatory element in GAA intron 1. We designed phosphorodiamidate morpholino oligomer-based AONs to this element, and these promoted exon 2 inclusion and enhanced GAA enzyme activity to levels above the disease threshold. These results indicate that the common IVS1 GAA splicing variant in Pompe disease is subject to negative regulation, and inhibition of a splicing regulatory element using AONs is able to restore canonical GAA splicing and endogenous GAA enzyme activity. The most common variant causing Pompe disease is c.-32-13T>G (IVS1) in the acid α-glucosidase (GAA) gene, which weakens the splice acceptor of GAA exon 2 and induces partial and complete exon 2 skipping. It also allows a low level of leaky wild-type splicing, leading to a childhood/adult-onset phenotype. We hypothesized that cis-acting splicing motifs may exist that could be blocked using antisense oligonucleotides (AONs) to promote exon inclusion. To test this, a screen was performed in patient-derived primary fibroblasts using a tiling array of U7 small nuclear RNA (snRNA)-based AONs. This resulted in the identification of a splicing regulatory element in GAA intron 1. We designed phosphorodiamidate morpholino oligomer-based AONs to this element, and these promoted exon 2 inclusion and enhanced GAA enzyme activity to levels above the disease threshold. These results indicate that the common IVS1 GAA splicing variant in Pompe disease is subject to negative regulation, and inhibition of a splicing regulatory element using AONs is able to restore canonical GAA splicing and endogenous GAA enzyme activity. The most common variant causing Pompe disease is c.-32-13T>G (IVS1) in the acid α-glucosidase ( GAA ) gene, which weakens the splice acceptor of GAA exon 2 and induces partial and complete exon 2 skipping. It also allows a low level of leaky wild-type splicing, leading to a childhood/adult phenotype. We hypothesized that cis -acting splicing motifs may exist that could be blocked using antisense oligonucleotides (AONs) to promote exon inclusion. To test this, a screen was performed in patient-derived primary fibroblasts using a tiling array of U7 small nuclear RNA (snRNA)-based AONs. This resulted in the identification of a splicing regulatory element in GAA intron 1. We designed phosphorodiamidate morpholino oligomer-based AONs to this element, and these promoted exon 2 inclusion and enhanced GAA enzyme activity to levels above the disease threshold. These results indicate that the common IVS1 GAA splicing variant in Pompe disease is subject to negative regulation, and inhibition of a splicing regulatory element using AONs is able to restore canonical GAA splicing and endogenous GAA enzyme activity. |
| Author | van der Wal, Erik Pijnenburg, Joon M. van der Ploeg, Ans T. Bergsma, Atze J. Pijnappel, W.W.M. Pim |
| AuthorAffiliation | 1 Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands 3 Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands 2 Department of Pediatrics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands |
| AuthorAffiliation_xml | – name: 3 Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands – name: 1 Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands – name: 2 Department of Pediatrics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands |
| Author_xml | – sequence: 1 givenname: Erik surname: van der Wal fullname: van der Wal, Erik organization: Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands – sequence: 2 givenname: Atze J. surname: Bergsma fullname: Bergsma, Atze J. organization: Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands – sequence: 3 givenname: Joon M. surname: Pijnenburg fullname: Pijnenburg, Joon M. organization: Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands – sequence: 4 givenname: Ans T. surname: van der Ploeg fullname: van der Ploeg, Ans T. organization: Department of Pediatrics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands – sequence: 5 givenname: W.W.M. Pim surname: Pijnappel fullname: Pijnappel, W.W.M. Pim email: w.pijnappel@erasmusmc.nl organization: Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/28624228$$D View this record in MEDLINE/PubMed |
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| Keywords | Pompe disease acid α-glucosidase lysosomal storage disease GAA antisense oligonucleotides metabolic disorder IVS1 exon inclusion skeletal muscle U7 snRNA screen lysosomal storage disorder pre-mRNA splicing |
| Language | English |
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| Snippet | The most common variant causing Pompe disease is c.-32-13T>G (IVS1) in the acid α-glucosidase (GAA) gene, which weakens the splice acceptor of GAA exon 2 and... The most common variant causing Pompe disease is c.-32-13T>G (IVS1) in the acid α-glucosidase ( GAA ) gene, which weakens the splice acceptor of GAA exon 2 and... |
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| SubjectTerms | acid α-glucosidase Antisense oligonucleotides Children Clinical trials Enzymatic activity Enzymes exon inclusion Fibroblasts GAA IVS1 lysosomal storage disease lysosomal storage disorder metabolic disorder Mutation Original Phenotypes Pompe disease pre-mRNA splicing Proteins Regulation RNA polymerase skeletal muscle snRNA Splicing Statistical analysis U7 snRNA screen α-Glucosidase |
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| Title | Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease |
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