Multiomics and machine-learning identify novel transcriptional and mutational signatures in amyotrophic lateral sclerosis.

ABSTRACT: Amyotrophic lateral sclerosis is a fatal and incurable neurodegenerative disease that mainly affects the neurons of the motor system. Despite the increasing understanding of its genetic components, their biological meanings are still poorly understood. Indeed, it is still not clear to which extent the pathological features associated with amyotrophic lateral sclerosis are commonly shared by the different genes causally linked to this disorder. To address this point, we combined multiomics analysis covering the transcriptional, epigenetic and mutational aspects of heterogenous human induced pluripotent stem cell-derived C9orf72-, TARDBP-, SOD1- and FUS-mutant motor neurons as well as datasets from patients' biopsies. We identified a common signature, converging towards increased stress and

SUBMITTER: Catanese A 

PROVIDER: S-EPMC10473564 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature