Stoccoro et al. [51] investigated mtDNA-CN and D-loop region methylation in blood specimens of an ALS Italian cohort of SOD1, TARDBP, FUS and C9orf72 mutation carriers (54 ALS patients, 28 asymptomatic carriers and 32 noncarriers family members). The gene discussed is SOD1; the disease is amyotrophic lateral sclerosis.