Sumaiya Nazeen, Xinyuan Wang, Dina Zielinski, Isabel Lam, Erinc Hallacli, Ping Xu, Elizabeth Ethier, Ronya Strom, Camila A Zanella, Vanitha Nithianandam, Dylan Ritter, Alexander Henderson, Nathalie Saurat, Jalwa Afroz, Andrew Nutter-Upham, Hadar Benyamini, Joseph Copty, Shyamsundar Ravishankar, Autumn Morrow, Jonathan Mitchel, Drew Neavin, Renuka Gupta, Nona Farbehi, Jennifer Grundman, Richard H Myers, Clemens R Scherzer, John Q Trojanowski, Vivianna M Van Deerlin, Antony A Cooper, Edward B Lee, Yaniv Erlich, Susan Lindquist, Jian Peng, Daniel H Geschwind, Joseph Powell, Lorenz Studer, Mel B Feany, Shamil R Sunyaev, Vikram Khurana
Whether neurodegenerative diseases linked to misfolding of the same protein share genetic risk drivers or whether different protein-aggregation pathologies in neurodegeneration are mechanistically related remains uncertain. Conventional genetic analyses are underpowered to address these questions. Through careful selection of patients based on protein aggregation phenotype (rather than clinical diagnosis) we can increase statistical power to detect associated variants in a targeted set of genes that modify proteotoxicities...
March 7, 2024: bioRxiv