AI Article Synopsis
- Clonal hematopoiesis of indeterminate potential (CHIP) is a condition where mutated blood stem cells expand and is linked to immune changes, prompting a study on its possible connection to Parkinson's disease (PD).
- Researchers analyzed blood DNA from 341 PD patients, 92 with isolated REM sleep behavior disorder (iRBD), and 5003 controls, focusing on specific genetic mutations related to blood disorders.
- The study found that PD patients, especially those with rapid motor progression, had a higher prevalence of CHIP with TET2 mutations compared to controls, indicating potential immune dysfunction in PD's development.
Article Abstract
Clonal hematopoiesis of indeterminate potential (CHIP), a premalignant expansion of mutated hematopoietic stem cells, is linked to immune alterations. Given the role of neuroinflammation and immune dysfunction in Parkinson's disease (PD), we hypothesized a connection between CHIP and PD. We analyzed peripheral blood DNA from 341 PD, 92 isolated REM sleep behavior disorder (iRBD) patients, and 5003 controls using targeted sequencing of 24 genes associated with hematologic neoplasms. PD cases were classified by clinical progression mode: fast, slow, and typical. Using multivariable logistic regression models, CHIP prevalence was assessed against controls with a 1.0% variant allele fraction threshold. CHIP with TET2 mutations was more prevalent in PD than controls (aOR 1.75, 95% CI 1.11-2.77, p = 0.017), particularly in the fast motor progression subgroup (aOR 3.19, p = 0.004). No distinct associations were observed with iRBD. PD is linked to increased odds of CHIP with TET2 mutations, suggesting immune dysregulation in PD pathophysiology.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11379878 | PMC |
| http://dx.doi.org/10.1038/s41531-024-00784-1 | DOI Listing |
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