Evidence map›Paper›PMID 41273014›Full record

ArticleBrain and behavior2025

Study on Abnormal Angiogenesis in Moyamoya Disease via Mitochondrial D-Loop Methylation.

Yuting Luo, Heng Ye, Chutong Guo, Shaoqing Wu, Xunsha Sun

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Article in Brain and behavior, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
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1 · What the graph read from it

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3 · Its place in the literature

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1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Yuting LuoDepartment of Neurology, The First Affiliated Hospital, Sun Yat-sen University; Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases; National Key Clinical Department and Key Discipline of Neurology, No.58 Zhongshan Road 2, Guangzhou, China.
Heng YeDepartment of Neurology, The First Affiliated Hospital, Sun Yat-sen University; Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases; National Key Clinical Department and Key Discipline of Neurology, No.58 Zhongshan Road 2, Guangzhou, China.
Chutong GuoDepartment of Neurology, The First Affiliated Hospital, Sun Yat-sen University; Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases; National Key Clinical Department and Key Discipline of Neurology, No.58 Zhongshan Road 2, Guangzhou, China.
Shaoqing WuGuangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Xunsha SunDepartment of Neurology, The First Affiliated Hospital, Sun Yat-sen University; Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases; National Key Clinical Department and Key Discipline of Neurology, No.58 Zhongshan Road 2, Guangzhou, China.ORCID https://orcid.org/0000-0002-4018-4188

Funding

Guangdong Province International Cooperation Base for Early Intervention and Functional Rehabilitation of Neurological Diseases 2020A0505020004Guangdong Provincial Clinical Research Center for Neurological Diseases 2020B1111170002Guangdong Provincial Engineering Center for Major Neurological Disease Treatment, Guangdong Provincial Translational Medicine Innovation Platform for Diagnosis and Treatment of Major Neurological Disease, Guangzhou Clinical Research and Translational Center for Major Neurological DiseasesGuangzhou Major Difficult and Rare Diseases Project 2024MDRD02Kelin New Talent Program R08016Science and Technology Projects in Guangzhou 202201020652The National Natural Science Foundation of China 82071292The National Natural Science Foundation of China 82271333
6 · The paper itself

Abstract

backgroundMitochondrial D-loop methylation leads to abnormal cerebral angiogenesis. This study examines its role in vascular phenotypes of moyamoya disease (MMD).

methodBlood samples from 96 intracranial artery stenosis/occlusion (ICASO) patients (35 MMD, 61 non-MMD) and healthy controls underwent methylation analysis. D-loop methylation levels were analyzed using chi-square, T-test, and Wilcoxon tests. Propensity score matching (PSM) adjusted for age and gender disparities. Combine clinical information with methylation data to build a diagnostic model. Further studies included the methylation levels in MMD patients carrying the RNF213 p.R4810K mutation and the methylation levels and possible mechanisms of human brain microvascular endothelial cells (hCMEC/D3) with RNF213 knockdown.

resultsHealthy controls showed higher D-loop methylation than MMD (p < 0.05). Post-PSM, non-MMD ICASO patients showed higher D-loop methylation than MMD (p < 0.05). The AUC of the prediction model was 0.891 (95% CI, 0.821-0.961) after combining clinical information with methylation data. MMD patients with the RNF213 mutation exhibited reduced methylation at most sites, though not statistically significant (p > 0.05). RNF213 knockout in hCMEC/D3 enhanced proliferation, migration, and tube formation, while reducing apoptosis and DNMT1 expression, leading to decreased D-loop methylation and ROS level, increased ATP production and mitochondrial membrane potential.

conclusionThere are differences in the methylation levels in the mitochondrial D-loop region between MMD and non-MMD ICASO. The methylation-metabolism-angiogenesis axis may represent a promising research direction for elucidating MMD pathogenesis.

Indexed as

DNA MethylationMitochondriaMoyamoya DiseaseNeovascularization, PathologicAdenosine TriphosphatasesAdultAngiogenesisEndothelial CellsFemaleHumansMaleMiddle AgedMutationUbiquitin-Protein LigasesAdenosine TriphosphatasesRNF213 protein, humanUbiquitin-Protein LigasesD‐loop methylationDNMT1intracranial major artery stenosis/occlusionmoyamoya diseaseRNF213

Identifiers

PMID41273014
PMCPMC12639187

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.