دورية أكاديمية

Association between polymorphism in the MTHFR gene and encephaloduroarteriosynangiosis-induced collateral circulation formation.

التفاصيل البيبلوغرافية
العنوان: Association between polymorphism in the MTHFR gene and encephaloduroarteriosynangiosis-induced collateral circulation formation.
المؤلفون: Gao G; 1Chinese PLA Medical School, Beijing, China.; 2Department of Neurosurgery, Chinese PLA General Hospital, Beijing, China., Bao XY; 2Department of Neurosurgery, Chinese PLA General Hospital, Beijing, China., Wang QN; 2Department of Neurosurgery, Chinese PLA General Hospital, Beijing, China., Wang XP; 1Chinese PLA Medical School, Beijing, China.; 2Department of Neurosurgery, Chinese PLA General Hospital, Beijing, China., Hao FB; 1Chinese PLA Medical School, Beijing, China.; 2Department of Neurosurgery, Chinese PLA General Hospital, Beijing, China., Liu SM; 1Chinese PLA Medical School, Beijing, China.; 2Department of Neurosurgery, Chinese PLA General Hospital, Beijing, China., Wang MJ; 1Chinese PLA Medical School, Beijing, China.; 2Department of Neurosurgery, Chinese PLA General Hospital, Beijing, China., Guo QB; 1Chinese PLA Medical School, Beijing, China.; 2Department of Neurosurgery, Chinese PLA General Hospital, Beijing, China., Li JJ; 1Chinese PLA Medical School, Beijing, China.; 2Department of Neurosurgery, Chinese PLA General Hospital, Beijing, China., Duan L; 2Department of Neurosurgery, Chinese PLA General Hospital, Beijing, China.
المصدر: Journal of neurosurgery [J Neurosurg] 2024 Apr 05, pp. 1-9. Date of Electronic Publication: 2024 Apr 05.
Publication Model: Ahead of Print
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: American Association of Neurological Surgeons Country of Publication: United States NLM ID: 0253357 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1933-0693 (Electronic) Linking ISSN: 00223085 NLM ISO Abbreviation: J Neurosurg Subsets: MEDLINE
أسماء مطبوعة: Publication: Charlottesville, VA : American Association of Neurological Surgeons
Original Publication: Chicago [etc.]
مستخلص: Objective: This study aimed to investigate whether high homocysteine (Hcy) levels associated with the MTHFR gene influence the formation of the collateral vascular network in patients with moyamoya disease (MMD) after encephaloduroarteriosynangiosis (EDAS) by influencing the number of endothelial progenitor cells (EPCs) in peripheral blood.
Methods: A total of 118 Chinese patients with bilateral primary MMD were prospectively included. Blood samples were collected from the anterior cubital vein before surgery, and MTHFR rs9651118 was genotyped using high-throughput mass spectrometry to determine the genotype of the test specimen. Serum Hcy and EPC levels were measured, the latter with flow cytometry. Digital subtraction angiography was performed 6 months after EDAS, and the formation of collateral circulation was evaluated using the Matsushima grade system. The correlations between MTHFR rs9651118 genotype, Hcy and EPC levels, and Matsushima grade were compared.
Results: Among the 118 patients, 53 had the TT genotype (wild type) of MTHFR rs9651118, 33 TC genotype (heterozygous mutation), and 32 CC genotype (homozygous mutation). The mean ± SD Hcy level was 13.4 ± 9.5 μmol/L in TT patients, 9.8 ± 3.2 μmol/L in TC patients, and 8.9 ± 2.9 μmol/L in CC patients (p < 0.001). The level of EPCs in the venous blood of TT patients was 0.039% ± 0.016%, that of TC patients 0.088% ± 0.061%, and that of CC patients 0.103% ± 0.062% (p < 0.001). When the rs9651118 gene locus was mutated, Matsushima grade was better (p < 0.001) but there was no difference between heterozygous and homozygous mutations.
Conclusions: The results suggest that the MTHFR rs9651118 polymorphism is a good biomarker for collateral vascular network formation after EDAS in MMD patients.
فهرسة مساهمة: Keywords: MTHFR rs9651118; encephaloduroarteriosynangiosis; endothelial progenitor cells; hyperhomocysteinemia; moyamoya disease; vascular disorders
تواريخ الأحداث: Date Created: 20240405 Latest Revision: 20240405
رمز التحديث: 20240406
DOI: 10.3171/2024.1.JNS232121
PMID: 38579348
قاعدة البيانات: MEDLINE
الوصف
تدمد:1933-0693
DOI:10.3171/2024.1.JNS232121