Distribution of Intracranial Major Artery Stenosis/Occlusion According to RNF213 Polymorphisms

Kim, Jinkwon; Park, Young Seok; Woo, Min Hee; An, Hee Jung; Kim, Jung Oh; Park, Han Sung; Ryu, Chang Soo; Kim, Nam Keun

doi:10.3390/ijms21061956

Cited by 5 publications

(5 citation statements)

References 49 publications

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“…The role of the so‐called “Moyamoya disease factor: RNF213” in Asian MA is still unclear. The RNF213 gene encodes a RING finger protein that possesses both ubiquitin ligase activity and ATPases associated with diverse cellular activities [74]. A founder mutation in this gene is mainly found in familial and sporadic patients with MA in Japan and Korea.…”

Section: Discussionmentioning

confidence: 99%

“…A founder mutation in this gene is mainly found in familial and sporadic patients with MA in Japan and Korea. Experimental data suggested multiple pathogenic mechanisms involving endothelial function, smooth muscle cell proliferation, inflammatory signaling pathways, hemostasis, angiogenesis, and vascular remodeling [74–77]. Currently, the exact role of RNF213 in vascular disorders remains controversial.…”

Section: Discussionmentioning

confidence: 99%

“…Elevated levels of basic fibroblast growth factors, soluble adhesion molecules, cellular retinoic acid-binding protein I, and hepatocyte growth factor were found in MA patients [6]. [74][75][76][77]. Currently, the exact role of RNF213 in vascular disorders remains controversial.…”

Section: Discussion and Con Clus Ionmentioning

confidence: 99%

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Cutaneous manifestations in Moyamoya angiopathy: A review

Mitri

Bersano

Hervé

et al. 2021

Euro J of Neurology

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Background and purpose: Moyamoya angiopathy (MA) is a progressive cerebrovascular disease with a poorly understood pathophysiology. It is mainly characterized by progressive bilateral stenosis of the terminal intracranial part of the supraclinoid internal carotid arteries and the proximal parts of the middle and anterior cerebral arteries. This results in early‐onset ischemic or hemorrhagic strokes. The disease may be idiopathic (known as Moyamoya disease) or associated with other heritable or acquired conditions, including type 1 neurofibromatosis or other RASopathies, sickle cell disease, Down syndrome, or autoimmune disorders (known as Moyamoya syndrome). Apart from the brain, other organ manifestations including cutaneous ones have also been described in MA patients. Materials and methods: A literature research on PubMed was performed for articles mentioning the cutaneous association in MA and published between 1994 and October 2020. Conclusion: The present review summarizes the cutaneous associations as well as the coincidental dermatological findings seen in MA patients. Those include changes in the epidermis, dermis, or skin appendages for example café‐au‐lait spots, hypomelanosis of Ito, livedo racemosa, hemangiomas, premature graying of hair, chilblains etc.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Cutaneous manifestations in Moyamoya angiopathy: A review

Mitri

Bersano

Hervé

et al. 2021

Euro J of Neurology

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“…Other studies mainly focused on gene polymorphism of the tissue inhibitor of metalloproteinase (TIMP) [ 45 ], the vascular smooth muscle cell (SMC)-specific isoform of alpha-actin (ACTA2) [ 46 ], and ring-finger protein 213 (RNF213) [ 47 , 48 ]. Mutations in RNF213, a zinc ring-finger protein that is related to intracranial major artery stenosis/occlusion [ 49 ], may affect the expression of some micro-RNAs and proteins associated with signaling processes involved in angiogenesis and immune activities that underlie the pathology and progression of MMD [ 50 ]. The amino acid substitution p.R4859K, the first identified RNF213 polymorphism associated with MMD, was found in 95% of patients with familial MMD, 80% of those with sporadic MMD, and 1.8% of control individuals in a Japanese population, in a genome-wide linkage and exome analysis study [ 51 ].…”

Section: Geneticsmentioning

confidence: 99%

Progression in Moyamoya Disease: Clinical Features, Neuroimaging Evaluation, and Treatment

Zhang

Xiao

Zhang

et al. 2022

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: Moyamoya disease (MMD) is a chronic cerebrovascular disease characterized by progressive stenosis of the arteries of the circle of Willis, with the formation of the collateral vascular network at the base of the brain. Its clinical manifestations are complicated. Numerous studies have attempted to clarify the clinical features of MMD, including its epidemiology, genetic characteristics, and pathophysiology. With the development of neuroimaging techniques, various neuroimaging modalities with different advantages have deepened the understanding of MMD in structural, functional, spatial, and temporal dimensions. At present, the main treatment for MMD focuses on neurological protection, cerebral blood flow reconstruction, and neurological rehabilitation, such as pharmacological treatment, surgical revascularization, and cognitive rehabilitation. In this review, we discuss recent progress in understanding the clinical features, neuroimaging evaluation, and treatment of MMD.

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“…In 2020, Han et al suggested that platelet activation and renin secretion may help guide clinical management and may further elucidate the pathogenesis of asymptomatic MMA(253). In 2020, Kim et al suggested that additional study of the molecular biology and functioning of RNF213 may further ascertain the pathophysiology of cerebrovascular disease and ICASO(233). In 2020, Wang et al stated that larger cohorts, including different ethnicities, may be warranted to further clarify associations between TGFB1 SNPs and MMA(235).…”

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confidence: 99%

Physiological and pathophysiological mechanisms of the molecular and cellular biology of angiogenesis and inflammation in moyamoya angiopathy and related vascular diseases

Dorschel

Wanebo

2023

Front. Neurol.

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RationaleThe etiology and pathophysiological mechanisms of moyamoya angiopathy (MMA) remain largely unknown. MMA is a progressive, occlusive cerebrovascular disorder characterized by recurrent ischemic and hemorrhagic strokes; with compensatory formation of an abnormal network of perforating blood vessels that creates a collateral circulation; and by aberrant angiogenesis at the base of the brain. Imbalance of angiogenic and vasculogenic mechanisms has been proposed as a potential cause of MMA. Moyamoya vessels suggest that aberrant angiogenic, arteriogenic, and vasculogenic processes may be involved in the pathophysiology of MMA. Circulating endothelial progenitor cells have been hypothesized to contribute to vascular remodeling in MMA. MMA is associated with increased expression of angiogenic factors and proinflammatory molecules. Systemic inflammation may be related to MMA pathogenesis.ObjectiveThis literature review describes the molecular mechanisms associated with cerebrovascular dysfunction, aberrant angiogenesis, and inflammation in MMA and related cerebrovascular diseases along with treatment strategies and future research perspectives.Methods and resultsReferences were identified through a systematic computerized search of the medical literature from January 1, 1983, through July 29, 2022, using the PubMed, EMBASE, BIOSIS Previews, CNKI, ISI web of science, and Medline databases and various combinations of the keywords “moyamoya,” “angiogenesis,” “anastomotic network,” “molecular mechanism,” “physiology,” “pathophysiology,” “pathogenesis,” “biomarker,” “genetics,” “signaling pathway,” “blood-brain barrier,” “endothelial progenitor cells,” “endothelial function,” “inflammation,” “intracranial hemorrhage,” and “stroke.” Relevant articles and supplemental basic science articles almost exclusively published in English were included. Review of the reference lists of relevant publications for additional sources resulted in 350 publications which met the study inclusion criteria. Detection of growth factors, chemokines, and cytokines in MMA patients suggests the hypothesis of aberrant angiogenesis being involved in MMA pathogenesis. It remains to be ascertained whether these findings are consequences of MMA or are etiological factors of MMA.ConclusionsMMA is a heterogeneous disorder, comprising various genotypes and phenotypes, with a complex pathophysiology. Additional research may advance our understanding of the pathophysiology involved in aberrant angiogenesis, arterial stenosis, and the formation of moyamoya collaterals and anastomotic networks. Future research will benefit from researching molecular pathophysiologic mechanisms and the correlation of clinical and basic research results.

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Distribution of Intracranial Major Artery Stenosis/Occlusion According to RNF213 Polymorphisms

Cited by 5 publications

References 49 publications

Cutaneous manifestations in Moyamoya angiopathy: A review

Cutaneous manifestations in Moyamoya angiopathy: A review

Progression in Moyamoya Disease: Clinical Features, Neuroimaging Evaluation, and Treatment

Physiological and pathophysiological mechanisms of the molecular and cellular biology of angiogenesis and inflammation in moyamoya angiopathy and related vascular diseases

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