A multi-omics and functional investigation of brains lacking full-length dystrophins
Joanna Pomeroy, Małgorzata Borczyk, Songfang Wu, Maria Kawalec, Jacek Hajto, Suraj Verma, Dorota Dymkowska, Anna Boratyńska-Jasińska, Samuel Svärd, Zongfeng Zhao, Yang Xi, David Laight, Gennady G. Yegutkin, Annalisa Occhipinti, Claudio Angione, Chengyin Yu, Krzysztof Zabłocki, Michal Korostynski, Barbara Zabłocka, Dariusz C. Gorecki · FENS Forum 2024
Duchenne Muscular Dystrophy (DMD) is an X-linked neuromuscular disorder characterized by progressive muscle degeneration, severe inflammation, and premature death of young adults. In addition to physical disability, DMD presents largely non-progressive neuropsychiatric abnormalities, impacting patient compliance with treatment and overall quality of life for both patients and their families. The disease arises from mutations in the DMD gene, which encodes structurally and functionally distinct dystrophins. Notably, individuals with DMD lack full-length isoforms present in crucial brain regions
ePoster · Neuroscience