The following is a summary of “Cerebrospinal fluid mtDNA concentrations are increased in multiple sclerosis and were normalized after intervention with autologous hematopoietic stem cell transplantation,” published in the April 2024 issue of Neurology by Pavlovic et al.

Elevated levels of mitochondrial DNA (mtDNA), a molecule that can trigger inflammation, in the cerebrospinal fluid (CSF) may be an early sign of disease activity in multiple sclerosis (MS), and aHSCT, a stem cell transplant treatment for MS, could potentially impact these mtDNA levels.

Researchers conducted a retrospective study to confirm higher mitochondrial DNA (mtDNA) in the CSF of patients with MS and investigate how aHSCT affects these mtDNA concentrations.

They utilized multiplex droplet digital PCR (ddPCR) to measure mtDNA and nuclear DNA levels in 182 CSF samples. The samples were obtained from 48 patients with MS before and after autologous hematopoietic stem cell transplantation (aHSCT), throughout yearly monitoring, and from 32 individuals in good health.

The results showed that CSF cell-free circulating mtDNA (ccf-mtDNA) levels were elevated in patients with MS, correlating with various clinical and analytical factors, and were restored to normal levels following intervention with aHSCT. Discrepancies were noted before aHSCT concerning MRI lesion counts, previous treatments, and the number of relapses in the year preceding aHSCT.

Investigators concluded that elevated levels of CSF mtDNA in patients with MS correlated with disease activity and returned to normal after aHSCT, suggesting mtDNA as a potential marker for MS inflammation and treatment response.

Source: msard-journal.com/article/S2211-0348(24)00061-0/fulltext#%20