The role of inflammation in diseases related to mitochondrial DNA maintenance: new potential biomarkers to be used as therapeutic targets

Maintaining a normal function of mitochondria, a subcellar organelle involved in energy production, is essential for cell survival in human body. Different damages affecting mitochondria activate stress-responsive pathways to restore mitochondrial network function. Failure of these quality control pathways is implicated in the pathogenesis of several neurodegenerative diseases. Impairment of mitochondrial quality control has been demonstrated to activate innate immune pathways, similar to those employed to defend from viral infections, involving an interferon-regulated response. Immune system malfunction is a common hallmark in many neurodegenerative diseases; however, the role of inflammation in suppressing or exacerbating disease pathology is still unclear. The goal of this study is to clarify the link between mitochondria and inflammation by studying biological samples of a large cohort of patients with mitochondrial diseases, considered the most common inborn errors of metabolism. We aim to develop new biomakers able to follow the natural history of the disease and new potential treatment directed to modulate inflammatory status to be tested in patients cells. If found effective, these treatments could be in the future tested in clinical trials.