Ccf mtDNA as a Neurodegenerative Biomarker

There is a long history of research into body fluid biomarkers in neurodegenerative and neuroinflammatory diseases. However, only a few biomarkers in cerebrospinal fluid (CSF) are being used in clinical practice. One of the most critical factors in biomarker research is the inadequate linkage of biological samples with data from medical records, environmental exposure, lifestyle information and other medically relevant information. In this context the biobanks are an invaluable resource for medical research and, in particular, for the identification of biomarkers. This project aims to enstablish a biobank for Multiple Sclerosis that allow to collect periodically, at each follow up, clinical data, tissues such as blood and cerebrospinal fluid and DNA, RNA, proteins, from patients afferent at the Centre for the Study and Cure of Multiple Sclerosis in Neurological Institute \"Neuromed\", Pozzilli, Isernia. The samples stored in this biobank are examined by quantization of a potential innovative biomarker focused on the formation of circulating mitochondrial DNA. Fragments of mitochondrial DNA (mtDNA) are released outside the cell and they appear to persist in extracellular fluids as circulating, cell-free, mtDNA (ccf-mtDNA). This occurs during acute inflammation, which anticipates the neurodegenerative process. Thus, an increase in inflammatory cells in the affected regions is expected to add on mtDNA release into the CSF. Thus, ccf-mtDNA may represent a powerful biomarker for disease screening and prognosis at early stage, although its biological role may extend to generating the neurobiology of disease. Aims: 1. Identify a technique that allows to isolate, the mitochondrial DNA circulating from different biological tissues (Droplet Digital PCR, Real Time PCR). 2. Use different technologies to quantify the presence of circulating mitochondrial DNA 3. Use circulating mitochondrial DNA as a biomarker of neurodegenerative and / or neuroinflammatory pathologies. It is essential to understand the tissue specific origin of circulating mtDNA for both diagnostic and therapeutic considerations. . We believe that our current knowledge on cell free circulating mtDNA is in a rather exploratory phase with a potential for the future to rewrite the pathology of the leading causes of morbidity and mortality such as inflammatory conditions, autoimmune disorders, cancer, heart disease, stroke and injury.