Plasma Lipid Profiling Contributes to Untangle the Complexity of Moyamoya Arteriopathy

Dei, Michele; Carrozzini, Tatiana; Pollaci, Giuliana; Potenza, Antonella; Nava, Sara; Canavero, Isabella; Tinelli, Francesca; Gorla, Gemma; Vetrano, Ignazio G.; Acerbi, Francesco; Ferroli, Paolo; Ciceri, Elisa; Esposito, Silvia; Saletti, Veronica; Ciusani, Emilio; Zulueta, Aı́da; Paroni, Rita; Parati, E.; Ghidoni, Riccardo; Bersano, Anna; Gatti, Laura

doi:10.3390/ijms222413410

Cited by 12 publications

(13 citation statements)

References 73 publications

(88 reference statements)

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“…We did not find any prevalence in the percentage of boys and girls in MMA pediatric patients. This finding differed from our adult MMA cohort that was characterized by a prevalence towards female patients (78.7%, [ 34 ]; 82.5%, [ 51 ]), as well as from previous well-established data from the literature [ 6 , 9 ]. Such an issue may be explained by the release of hormones associated with secondary sex characteristics, and it could be a clue to investigate other pathways potentially involved with this obscure disease.…”

Section: Discussioncontrasting

confidence: 99%

Increase of Circulating Endothelial Progenitor Cells and Released Angiogenic Factors in Children with Moyamoya Arteriopathy

Gorla

Carrozzini

Pollaci

et al. 2023

IJMS

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Moyamoya arteriopathy (MMA) is a rare cerebrovascular disorder that causes recurrent ischemic and hemorrhagic strokes, leading young patients to severe neurological deficits. The pathogenesis of MMA is still unknown. The disease onset in a wide number of pediatric cases raises the question of the role of genetic factors in the disease’s pathogenesis. In these patients, MMA’s clinical course, or progression, is largely unclear. By performing a comprehensive molecular and cellular profile in the plasma and CSF, respectively, of MMA pediatric patients, our study is aimed at assessing the levels of circulating endothelial progenitor cells (cEPC) and the release of selected proteins at an early disease stage to clarify MMA pathogenesis and progression. We employed cytofluorimetric methods and immunoassays in pediatric MMA patients and matched control subjects by age and sex. We detected increased levels of cEPC in peripheral blood and an upregulation of angiogenic markers in CSF (i.e., angiopoietin-2 and VEGF-A). This finding is probably associated with deregulated angiogenesis, as stated by the moderate severity of collateral vessel network development (Suzuki III-IV). The absence of significant modulation of neurofilament light in CSF led us to rule out the presence of substantial neuronal injury in MMA children. Despite the limited cohort of pediatric patients, we found some peculiar cellular and molecular characteristics in their blood and CSF samples. Our findings may be confirmed by wider and perspective studies to identify predictive or prognostic circulating biomarkers and potential therapeutic targets for personalized care of MMA pediatric patients.

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Section: Discussioncontrasting

confidence: 99%

Increase of Circulating Endothelial Progenitor Cells and Released Angiogenic Factors in Children with Moyamoya Arteriopathy

Gorla

Carrozzini

Pollaci

et al. 2023

IJMS

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“…Moyamoya arteriopathy (MA) is known as a rare cerebrovascular disease associated with Ring Finger Protein 213 variants [ 122 ]. Patients suffer from recurrent ischemic and hemorrhagic strokes, severe neurological deficits and progressive physical disabilities.…”

Section: Lipid*omic*s In Rare Diseasesmentioning

confidence: 99%

Lipidomics—Paving the Road towards Better Insight and Precision Medicine in Rare Metabolic Diseases

Zandl-Lang

Plecko

Köfeler

2023

IJMS

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Even though the application of Next-Generation Sequencing (NGS) has significantly facilitated the identification of disease-associated mutations, the diagnostic rate of rare diseases is still below 50%. This causes a diagnostic odyssey and prevents specific treatment, as well as genetic counseling for further family planning. Increasing the diagnostic rate and reducing the time to diagnosis in children with unclear disease are crucial for a better patient outcome and improvement of quality of life. In many cases, NGS reveals variants of unknown significance (VUS) that need further investigations. The delineation of novel (lipid) biomarkers is not only crucial to prove the pathogenicity of VUS, but provides surrogate parameters for the monitoring of disease progression and therapeutic interventions. Lipids are essential organic compounds in living organisms, serving as building blocks for cellular membranes, energy storage and signaling molecules. Among other disorders, an imbalance in lipid homeostasis can lead to chronic inflammation, vascular dysfunction and neurodegenerative diseases. Therefore, analyzing lipids in biological samples provides great insight into the underlying functional role of lipids in healthy and disease statuses. The method of choice for lipid analysis and/or huge assemblies of lipids (=lipidome) is mass spectrometry due to its high sensitivity and specificity. Due to the inherent chemical complexity of the lipidome and the consequent challenges associated with analyzing it, progress in the field of lipidomics has lagged behind other omics disciplines. However, compared to the previous decade, the output of publications on lipidomics has increased more than 17-fold within the last decade and has, therefore, become one of the fastest-growing research fields. Combining multiple omics approaches will provide a unique and efficient tool for determining pathogenicity of VUS at the functional level, and thereby identifying rare, as well as novel, genetic disorders by molecular techniques and biochemical analyses.

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“…However, despite more than 60 years of continuous research, its mechanisms remain unclear. Recent research suggests that TGs is a risk factor for cerebrovascular diseases, including carotid artery stenosis and intracranial artery stenosis ( 4 , 5 ). Therefore, exploring the factors associated with abnormal lipid metabolism could facilitate our knowledge of the its fundamental mechanics.…”

Section: Introductionmentioning

confidence: 99%

The relationship between hemoglobin and triglycerides in moyamoya disease: A cross-sectional study

Sui

Zhao

et al. 2022

Front. Neurol.

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Hemoglobin (Hb) and lipid metabolism are critical in the pathophysiology of moyamoya disease (MMD), and Hb and triglycerides (TGs) both play roles in the development of cerebrovascular illness. However, there is little evidence of a link between Hb and TGs in patients with MMD. This study aimed to determine the association between Hb and TGs in patients who had recently been diagnosed with MMD. From March 2013 to December 2018, 337 patients clinically diagnosed with MMD were admitted to our hospital. Among these, 235 were selected for analysis in this retrospective, cross-sectional study. Each patient's clinical features were documented. For analysis, we used univariate analysis, smoothed-curve fitting, and multivariable, piecewise linear regression. Overall, the mean±standard deviation patient age was 48.14 ± 11.24 years, 44.68% were men, and the mean Hb concentration was 135.72 ± 18.99 g/L. After controlling for relevant confounders, smoothed-curve fitting revealed a nonlinear association between the Hb and TG concentrations (P = 0.0448). When the Hb concentration was below 141 g/L, multivariate piecewise linear regression analysis revealed a significant association between the Hb and TG concentrations [β: 0.01, 95% confidence interval (CI): 0.00, 0.01; P = 0.0182], although the association disappeared above this threshold (β:−0.00, 95% CI:−0.01, 0.01; P = 0.4429). In individuals newly diagnosed with MMD, there is a significant correlation between Hb and TGs, which may be connected to MMD pathogenesis.

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Plasma Lipid Profiling Contributes to Untangle the Complexity of Moyamoya Arteriopathy

Cited by 12 publications

References 73 publications

Increase of Circulating Endothelial Progenitor Cells and Released Angiogenic Factors in Children with Moyamoya Arteriopathy

Increase of Circulating Endothelial Progenitor Cells and Released Angiogenic Factors in Children with Moyamoya Arteriopathy

Lipidomics—Paving the Road towards Better Insight and Precision Medicine in Rare Metabolic Diseases

The relationship between hemoglobin and triglycerides in moyamoya disease: A cross-sectional study

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