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Updated: Jun 5, 2025
Single-cell Analysis of Immunophenotype and Cytokine Production in Peripheral Whole Blood via Mass Cytometry
Published on: June 26, 2018
Innate Immune Cell Profiling in Peripheral Blood Mononuclear Cells of Patients with Moyamoya Disease
Chenglong Liu1,2, Siqi Mou1,3, Bojian Zhang1,2
1Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100070, China.
Abstract:
Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by stenosis or occlusion of the internal carotid artery, thus leading to ischaemic and haemorrhagic strokes. Although genetic studies have identified ring finger protein 213 (RNF213) as a susceptibility gene, the low disease penetrance suggests that a secondary trigger, such as infection, may initiate disease onset. This study aimed to characterize the innate immune cell profile of peripheral blood mononuclear cells (PBMCs) of MMD patients via mass cytometry (CyTOF). Blood samples from 10 MMD patients and 10 healthy controls were analysed, with a focus on natural killer (NK) cells, monocytes, and dendritic cells (DCs). The results revealed significant changes in the NK and monocyte subpopulations in MMD patients; specifically, there was a decrease in the CD56dimCD16- NK03 subset and an increase in CD163high classical monocytes, thus indicating compromised microbial defences and heightened inflammation. Additionally, significant changes were observed in DC subpopulations, including an increase in CCR7+ mature DCs and a decrease in CD141+ and CD1c+ DCs. Overactivation of the TLR/MyD88/NF-κB pathway was observed in most innate immune cells, thus indicating its potential role in disease progression. These findings provide novel insights into immune dysfunction in MMD and highlight potential therapeutic targets.
Insights
Moyamoya disease (MMD) involves narrowed brain arteries. This study found immune cell changes in MMD patients, suggesting infection may trigger the disease and highlighting potential therapeutic targets for this rare condition.
Area of Science:
- Neuroscience
- Immunology
- Genetics
Background:
- Moyamoya disease (MMD) is a rare cerebrovascular disorder causing stroke due to internal carotid artery stenosis.
- The RNF213 gene is linked to MMD, but low penetrance suggests environmental triggers like infection are involved.
- Understanding the innate immune system's role is crucial for MMD pathogenesis.
Purpose of the Study:
- To investigate the peripheral innate immune cell profile in Moyamoya disease patients.
- To identify specific immune cell subpopulations altered in MMD.
- To explore the involvement of the TLR/MyD88/NF-κB pathway in MMD immune dysfunction.
Main Methods:
- Mass cytometry (CyTOF) was used to analyze peripheral blood mononuclear cells (PBMCs).
- Samples from 10 MMD patients and 10 healthy controls were compared.
- Focus was placed on natural killer (NK) cells, monocytes, and dendritic cells (DCs).
Main Results:
- MMD patients showed decreased CD56dimCD16- NK cells and increased CD163high classical monocytes.
- Significant alterations in dendritic cell subsets were observed, including increased mature CCR7+ DCs.
- Overactivation of the TLR/MyD88/NF-κB pathway was detected across multiple innate immune cells.
Conclusions:
- Innate immune cell dysregulation, particularly in NK cells and monocytes, is evident in MMD.
- Altered DC populations and TLR/MyD88/NF-κB pathway activation suggest a role in MMD progression.
- These findings offer insights into MMD pathogenesis and potential immune-based therapeutic strategies.
