Reduced mitochondrial D-loop methylation levels in sporadic amyotrophic lateral sclerosis

Andrea Stoccoro, Adam R. Smith, Lorena Mosca, Alessandro Marocchi, Francesca Gerardi, Christian Lunetta, Cristina Cereda, Stella Gagliardi, Katie Lunnon, Lucia Migliore & Fabio Coppedè
Abstract Background Mitochondrial dysregulation and aberrant epigenetic mechanisms have been frequently reported in neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS), and several researchers suggested that epigenetic dysregulation in mitochondrial DNA (mtDNA) could contribute to the neurodegenerative process. We recently screened families with mutations in the major ALS causative genes, namely C9orf72, SOD1, FUS, and TARDBP, observing reduced methylation levels of the mtDNA regulatory region (D-loop) only in peripheral lymphocytes of SOD1 carriers. However, until now...
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