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• W3036254927 abstract "Abstract Objective Recent advances in therapeutics have improved prognosis for severely affected spinal muscular atrophy (SMA) type 1 and 2 patients, while the best method of treatment for SMA type 3 patients with later onset of disease is unknown. To better characterize the SMA type 3 population and provide potential therapeutic targets, we aimed to understand gene expression differences in whole blood of SMA type 3 patients (n = 31) and age‐ and gender‐matched controls (n = 34). Methods We performed the first large‐scale whole blood transcriptomic screen with L1000, a rapid, high‐throughput gene expression profiling technology that uses 978 landmark genes to capture a representation of the transcriptome and predict expression of 9196 additional genes. Results The primary downregulated KEGG pathway in adult SMA type 3 patients was Regulation of Actin Cytoskeleton,” and downregulated expression of key genes in this pathway, including ROCK1 , RHOA , and ACTB, was confirmed in the same whole blood samples using RT‐qPCR. SMA type 3 patient‐derived fibroblasts had lower expression of these genes compared to control fibroblasts from unaffected first‐degree relatives. Overexpression of SMN levels using an AAV vector in fibroblasts did not normalize ROCK1 , RHOA , and ACTB mRNA expression, indicating the involvement of additional genes in cytoskeleton dynamic regulation. Interpretation Our findings from whole blood and patient‐derived fibroblasts suggest SMA type 3 patients have decreased expression of actin cytoskeleton regulators. These observations provide new insights and potential therapeutic targets for SMA patients with longstanding denervation and secondary musculoskeletal pathophysiology." @default.
• W3036254927 created "2020-06-25" @default.
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• W3036254927 date "2020-06-17" @default.
• W3036254927 modified "2023-09-26" @default.
• W3036254927 title "Whole‐blood dysregulation of actin‐cytoskeleton pathway in adult spinal muscular atrophy patients" @default.
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• W3036254927 doi "https://doi.org/10.1002/acn3.51092" @default.
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