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Updated: Jun 13, 2025
Bone Marrow Transplantation Procedures in Mice to Study Clonal Hematopoiesis
Published on: May 26, 2021
Clonal hematopoiesis with DNMT3A mutations is associated with multiple system atrophy
Seungmin Lee1, Han-Joon Kim1, Seoyeon Kim1
1Department of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.
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.
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