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Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types. | LitMetric

AI Article Synopsis

  • Researchers are exploring the genetic causes of amyotrophic lateral sclerosis (ALS) but still lack a full understanding of its molecular mechanisms.
  • A study involving 78,500 individuals utilized a polygenic risk score approach to identify key biological pathways and cell types linked to ALS.
  • The findings highlight important themes like neuron projection morphogenesis and GABAergic interneurons, suggesting that varying genetic factors for ALS share common pathways in the disease's development.

Article Abstract

Despite the considerable progress in unraveling the genetic causes of amyotrophic lateral sclerosis (ALS), we do not fully understand the molecular mechanisms underlying the disease. We analyzed genome-wide data involving 78,500 individuals using a polygenic risk score approach to identify the biological pathways and cell types involved in ALS. This data-driven approach identified multiple aspects of the biology underlying the disease that resolved into broader themes, namely, neuron projection morphogenesis, membrane trafficking, and signal transduction mediated by ribonucleotides. We also found that genomic risk in ALS maps consistently to GABAergic interneurons and oligodendrocytes, as confirmed in human single-nucleus RNA-seq data. Using two-sample Mendelian randomization, we nominated six differentially expressed genes (, , , , , and ) within the significant pathways as relevant to ALS. We conclude that the disparate genetic etiologies of this fatal neurological disease converge on a smaller number of final common pathways and cell types.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7810371PMC
http://dx.doi.org/10.1126/sciadv.abd9036DOI Listing

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