Splicing-Correcting Therapy for SMA | Zendy

Lili Wan | Zendy; Gideon Dreyfuss | Zendy

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Splicing-Correcting Therapy for SMA

Author(s) -

Lili Wan,

Gideon Dreyfuss

Publication year - 2017

Publication title -

cell

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 26.304

H-Index - 776

eISSN - 1097-4172

pISSN - 0092-8674

DOI - 10.1016/j.cell.2017.06.028

Subject(s) - smn1 , spinal muscular atrophy , biology , sma* , rna splicing , exonic splicing enhancer , spliceosome , enhancer , genetics , microbiology and biotechnology , rna , gene expression , gene , mathematics , combinatorics

Spinal muscular atrophy (SMA) is caused by deficiency of SMN protein, which is crucial for spliceosome subunits biogenesis. Most SMA patients have SMN1 deletions, leaving SMN2 as sole SMN source; however, a C→T substitution converts an exonic-splicing enhancer (ESE) to a silencer (ESS), causing frequent exon7 skipping in SMN2 pre-mRNA and yielding a truncated protein. Antisense treatment to SMN2 intron7-splicing silencer (ISS) improves SMN expression and motor function. To view this Bench to Bedside, open or download the PDF.

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