Clonal hematopoiesis with DNMT3A mutations is associated with multiple system atrophy.

BACKGROUND

Clonal hematopoiesis of indeterminate potential (CHIP) is associated with cardiovascular diseases and other disorders, possibly via inflammation. Recent research suggests a connection of CHIP with neurodegenerative disorders.

OBJECTIVE

We aimed to investigate the association between multiple system atrophy (MSA) and CHIP.

METHODS

We included 100 patients with MSA and 4457 controls. Targeted sequencing of peripheral blood DNA samples was performed, focusing on a panel of 25 genes commonly.

LINKED TO CHIP: The prevalence of CHIP in patients with MSA was assessed against controls at variant allele frequency (VAF) thresholds of 1.5 % and 2.0 %.

RESULTS

DNMT3A mutation rates were significantly higher in patients with MSA, with a VAF of 1.5 %, which remained significant after adjusting for age and sex (adjusted odds ratio, 1.848; 95 % CI, 1.024-3.335; p = 0.0416).

CONCLUSION

Our results suggest an association between DNMT3A mutations and MSA.