Large-scale Deletions and Copy Number of Mitochondrial DNA in Blood of Neuromyelitis Optica Spectrum Disorder Patient

Abstract

Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune disease characterized by inflammation and demyelination in the central nervous system. Recently, researchers suggested that mitochondrial DNA (mtNDA) may be an important factor involved in the NMOSD. In this study, we determined the level of mtDNA deletions and mtDNA copy number in 45 blood samples of Vietnamese NMOSD patients using real-time PCR. The results showed that the mtDNA copy number in the group of patients with NMOSD in the age range 33-46 was lower than in the patients in other age ranges (P=0.0386). The level of mtDNA deletions and mtDNA copy number in patients with NMOSD, especially in AQP4-IgG-positive NMOSD patients, were higher than in the control group (P<0.05). In addition, the study also showed that when the level of deletions > 61.98% and the mtDNA copy number > 344.30, the ROC curve model of both had an accuracy of 83.97%, showed that the level of mtDNA deletions and mtDNA copy number could be a potential biomarker of NMOSD.