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- W2960606948 abstract "Amyotrophic lateral sclerosis (ALS) is an incurable and fatal neurodegenerative disease. Increasing the chances of success for future clinical strategies requires more in-depth knowledge of the molecular basis underlying disease heterogeneity. We recently laid the foundation for a molecular taxonomy of ALS by whole-genome expression profiling of motor cortex from sporadic ALS (SALS) patients. Here, we analyzed copy number variants (CNVs) occurring in the same patients, by using a customized exon-centered comparative genomic hybridization array (aCGH) covering a large panel of ALS-related genes. A large number of novel and known disease-associated CNVs were detected in SALS samples, including several subgroup-specific loci, suggestive of a great divergence of two subgroups at the molecular level. Integrative analysis of copy number profiles with their associated transcriptomic data revealed subtype-specific genomic perturbations and candidate driver genes positively correlated with transcriptional signatures, suggesting a strong interaction between genomic and transcriptomic events in ALS pathogenesis. The functional analysis confirmed our previous pathway-based characterization of SALS subtypes and identified 24 potential candidates for genomic-based patient stratification. To our knowledge, this is the first comprehensive “omics” analysis of molecular events characterizing SALS pathology, providing a road map to facilitate genome-guided personalized diagnosis and treatments for this devastating disease." @default.
- W2960606948 created "2019-07-23" @default.
- W2960606948 creator A5002398450 @default.
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- W2960606948 date "2019-07-10" @default.
- W2960606948 modified "2023-10-12" @default.
- W2960606948 title "Integrative multi-omic analysis identifies new drivers and pathways in molecularly distinct subtypes of ALS" @default.
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- W2960606948 doi "https://doi.org/10.1038/s41598-019-46355-w" @default.
- W2960606948 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6620285" @default.
- W2960606948 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31292500" @default.
- W2960606948 hasPublicationYear "2019" @default.
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