Inflammatory profile in mitochondrial diseases: A cohort study

Here we present a cohort study of the serum inflammatory profile in adult patients with genetically defined MDs, to better elucidate the role of peripheral immune response in these neurogenetic disorders. This is an observational case–control study performed at the Fondazione Policlinico Universitario Agostino Gemelli IRCCS, including subjects with a molecular diagnosis of primary mitochondrial myopathy. Full demographic and clinical data of the MD patients and\r\nhealthy controls (HCs) are reported in Data S1. Thirty adult patients with a genetically defined MD with predominant\r\ninvolvement of skeletal muscle and 26 age-and sex-matched HCs were included in the study. Summing up, our results suggest that inflammation plays a role in primary MDs and may represent an interesting field for future therapeutic\r\nperspective