Age-specific eNOS polymorphisms in moyamoya disease

Park, Young Seok; Min, Kyungha; Kim, Tae-Gon; Lee, Yun Ho; Cheong, Hee Jin; Yeom, In Sun; Choi, Jina; Kim, Do Kyung; Kim, Nam Keun

doi:10.1007/s00381-011-1504-z

Cited by 17 publications

(12 citation statements)

References 38 publications

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“…Another classification option to further avoid confusion and to help researchers identify etiologies and direct treatments would be to classify moyamoya on a genetic and etiological basis (Table 4). Genetic causes have been implicated primarily in Asian patients [40][41][42][43][44][45][46][47] and, to lesser extent, in white populations and genetic syndromes (ie, Down syndrome and neurofibromatosis). [48][49][50][51][52] These could be designated moyamoya type 1 (Asian genotype) and moyamoya type 2 (white genotype and other genetic syndromes).…”

Section: Proposed Classification Systemmentioning

confidence: 99%

Surgical Outcomes and Predictors of Stroke in a North American White and African American Moyamoya Population

et al. 2013

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Outcomes were favorable with revascularization in this subset with moyamoya. A significant association between a history of thyroid disease and recurrent stroke was found. Additionally, high prevalences of autoimmune disease, hypertension, and thyroid disease were found in our cohort, suggesting that they may play a role in the pathophysiology and progression of moyamoya disease in this population. A new classification for moyamoya is proposed based on these data.

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Section: Proposed Classification Systemmentioning

confidence: 99%

Surgical Outcomes and Predictors of Stroke in a North American White and African American Moyamoya Population

et al. 2013

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“…Moyamoya disease etiology may be idiopathic, environmental, or genetic. The search for genetic loci linked to moyamoya disease has uncovered associations with chromosomes 3, 6, 7, 8, and 17 and the HLA haplotype [1]–[8], but relevant genes have not been identified [9]. Recent linkage analyses from East Asian families with moyamoya disease demonstrated a linkage of 17q25.3 with the disease at a locus that is −1480 bp from the transcription site of the Raptor gene.…”

Section: Introductionmentioning

confidence: 99%

The Role of VEGF and KDR Polymorphisms in Moyamoya Disease and Collateral Revascularization

et al. 2012

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We conducted a case-control study to investigate whether vascular endothelial growth factor (VEGF −2578, −1154, −634, and 936) and kinase insert domain containing receptor (KDR −604, 1192, and 1719) polymorphisms are associated with moyamoya disease. Korean patients with moyamoya disease (n = 107, mean age, 20.9±15.9 years; 66.4% female) and 243 healthy control subjects (mean age, 23.0±16.1 years; 56.8% female) were included. The subjects were divided into pediatric and adult groups. Among the 64 surgical patients, we evaluated collateral vessel formation after 2 years and divided patients into good (collateral grade A) or poor (collateral grade B and C) groups. The frequencies and distributions of four VEGF (−2578, −1154, −634, and 936) and KDR (−604, 1192, and 1719) polymorphisms were assessed from patients with moyamoya disease and compared to the control group. No differences were observed in VEGF −2578, −1154, −634, and 936 or KDR −604, 1192, and 1719 polymorphisms between the control group and moyamoya disease group. However, we found the −634CC genotype occurred less frequently in the pediatric moyamoya group (p = 0.040) whereas the KDR −604C/1192A/1719T haplotype increased the risk of pediatric moyamoya (p = 0.024). Patients with the CC genotype of VEGF −634 had better collateral vessel formation after surgery. Our results suggest that the VEGF −634G allele is associated with pediatric moyamoya disease and poor collateral vessel formation.

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“…However, another study reported that serum levels of nitric oxide metabolites in patients with moya moya disease did not differ from those in healthy controls [12]. Moreover, researchers found no difference in polymorphisms in endothelial nitric oxide synthase, a key molecule for producing nitric oxide, between control and moyamoya disease groups [18]. However, all these studies included a small number of patients and did not perform direct measurements of clinical endothelial function.…”

Section: Discussionmentioning

confidence: 99%

Flow-Mediated Dilatation of the Brachial Artery for Assessing Endothelial Dysfunction in Children with Moyamoya Disease

et al. 2020

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Background: Moyamoya disease is a progressive, steno-occlusive arteriopathy involving the internal carotid artery and its branches and causing recurrent stroke episodes in children. Patients with moyamoya disease may be more susceptible to influences that cause endothelial dysfunction. We evaluated whether flow-mediated dilatation (FMD) of the brachial artery is useful for assessing endothelial dysfunction in children with moyamoya disease. Methods: This prospective observational study included 30 children with moyamoya disease and 30 controls. After anesthesia induction, a blood pressure cuff was applied to the forearm and inflated to a pressure that was 50 mm Hg above the baseline systolic blood pressure for 5 min. From 30 s before to 2 min after deflation, the brachial artery diameter was recorded on ultrasound. The increase in internal diameter was expressed as the percentage of the baseline diameter. Results: Fiftynine patients were analyzed. Baseline brachial artery diameters in the moyamoya and control groups were 3.00 and 3.37 mm, respectively (p = 0.004; difference, 0.38; 95% CI 0.12-0.63), while those after deflation were 3.06 and 3.48 mm, respectively (p = 0.003; difference, 0.42; 95% CI 0.15-0.68). The percent change of the baseline diameter value was 4.0% in the disease group and 8.3% in the control group (p = 0.10). There was a group and time interaction for brachial artery diameter (p = 0.01; main effect of group, p = 0.009; main effect of time, p = 0.007). Conclusion: FMD of the brachial artery may not be enough for determining endothelial dysfunction under general anesthesia in children with moyamoya disease.

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Age-specific eNOS polymorphisms in moyamoya disease

Abstract: Our results suggest that pediatric and adult-onset moyamoya disease have different genetic backgrounds. These genetic differences can affect age-specific clinical characteristics, such as cerebral ischemia and hemorrhage.

Cited by 17 publications

References 38 publications

Surgical Outcomes and Predictors of Stroke in a North American White and African American Moyamoya Population

Surgical Outcomes and Predictors of Stroke in a North American White and African American Moyamoya Population

The Role of VEGF and KDR Polymorphisms in Moyamoya Disease and Collateral Revascularization

Flow-Mediated Dilatation of the Brachial Artery for Assessing Endothelial Dysfunction in Children with Moyamoya Disease

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