- Prof. Fabio Coppedè
- Department of Translational Research and of New Surgical and Medical Technologies, Medical Genetics Laboratory, University of Pisa, Pisa, Italy.
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Special Issue Introduction
Neurodegenerative diseases (NDD) are a heterogeneous group of conditions leading to gradual and progressive cognitive or movement impairments, depending on the type of neuronal cells undergoing selective degeneration with the diseases. They include Alzheimer’s disease, Parkinson’s disease and amyotrophic lateral sclerosis. All of them are characterized by a minority of monogenic forms and by the vast majority of the cases resulting from complex interactions between genetic and environmental factors, conditions such as Huntington’s disease or spinocerebellar ataxias that are completely hereditary, and prion diseases including inherited, sporadic and acquired forms. Together with the genetic factors contributing to neurodegeneration, increasing evidence points to a role for epigenetic modifications such as DNA methylation, histone tail modifications and non-coding RNA mediated mechanisms. This special issue aims to provide a detailed and updated overview on the genetics and epigenetics of NDD. Indeed, we expect to collect cutting-edge basic research articles aimed at identifying genetic and epigenetic biomarkers of these disorders, as well as updated narrative reviews on a given disease or a disease category. Genome-wide (GWAS) and epigenome-wide association studies (EWAS), and their systematic review and meta-analysis are particularly welcome. We are also interested in candidate-gene investigations, articles dealing with the application of the polygenic risk score in major NDD, and papers addressing the contribution of environmental factors to the epigenetic changes observed in these conditions. Papers focusing on the translation potential and the clinical utility of these biomarkers are also of interest.
Submission Deadline30 Jun 2021