Mtdna D-Loop Variant M.16519c Modifies The Expression Pattern Of Transmitochondrial Cybrids Conditioning The Risk Of Developing The Rapidly Progressive Knee Osteoarthritis. Potential Role Of Inflammation.

Purpose: Previous results from our group showed an association of the mtDNA variant m.16519C with the risk of developing the rapidly progressive knee osteoarthritis (RPKOA) phenotype. In a preliminary functional study using transmitochondrial cybrids, we found that this variant affects mitochondrial biogenesis and fission/fusion processes, as well as superoxide anion production and cell survival under oxidative stress. In the present work we want to expand this study by using RNA sequencing techniques to analyse if the presence of this variant modifies the human transcriptome of cybrids.