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Mutations in the Motile Cilia Gene DNAAF1 Are Associated with Neural Tube Defects in Humans.运动纤毛基因DNAAF1的突变与人类神经管缺陷有关。
G3 (Bethesda). 2016 Oct 13;6(10):3307-3316. doi: 10.1534/g3.116.033696.
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A Novel Homozygous Mutation in the Transient Receptor Potential Melastatin 6 Gene: A Case Report.瞬时受体电位褪黑素6基因的一种新型纯合突变：病例报告
J Clin Res Pediatr Endocrinol. 2016 Mar 5;8(1):101-4. doi: 10.4274/jcrpe.2254. Epub 2015 Dec 18.
3
TRPM channels and magnesium in early embryonic development.瞬时受体电位M型通道与早期胚胎发育中的镁
Int J Dev Biol. 2015;59(7-9):281-8. doi: 10.1387/ijdb.150196lr.
4
TRPM6.瞬时受体电位阳离子通道亚家族M成员6
Handb Exp Pharmacol. 2014;222:503-20. doi: 10.1007/978-3-642-54215-2_20.
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Neural tube defects: recent advances, unsolved questions, and controversies.神经管缺陷：最新进展、未解问题与争议
Lancet Neurol. 2013 Aug;12(8):799-810. doi: 10.1016/S1474-4422(13)70110-8. Epub 2013 Jun 19.
6
Higher magnesium intake is associated with lower fasting glucose and insulin, with no evidence of interaction with select genetic loci, in a meta-analysis of 15 CHARGE Consortium Studies.在 15 项 CHARGE 联盟研究的荟萃分析中，较高的镁摄入量与较低的空腹血糖和胰岛素有关，且与特定遗传位点无交互作用的证据。
J Nutr. 2013 Mar;143(3):345-53. doi: 10.3945/jn.112.172049. Epub 2013 Jan 23.
7
Cellular magnesium homeostasis.细胞镁离子稳态。
Arch Biochem Biophys. 2011 Aug 1;512(1):1-23. doi: 10.1016/j.abb.2011.05.010. Epub 2011 May 27.
8
Gene variation of the transient receptor potential cation channel, subfamily M, members 6 (TRPM6) and 7 (TRPM7), and type 2 diabetes mellitus: a case-control study.瞬时受体电位阳离子通道亚家族 M 成员 6（TRPM6）和 7（TRPM7）的基因变异与 2 型糖尿病：病例对照研究。
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9
Transient receptor potential melastatin 6 knockout mice are lethal whereas heterozygous deletion results in mild hypomagnesemia.瞬时受体电位 melastatin 6 敲除小鼠是致命的，而杂合缺失导致轻度低镁血症。
Nephron Physiol. 2011;117(2):p11-9. doi: 10.1159/000320580. Epub 2010 Sep 1.
10
Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.全基因组关联研究血清镁、钾和钠浓度鉴定出影响血清镁水平的六个位点。
PLoS Genet. 2010 Aug 5;6(8):e1001045. doi: 10.1371/journal.pgen.1001045.

脊髓脊膜膨出患者中镁离子通透多态性

Magnesium-permeable polymorphisms in patients with meningomyelocele.

作者信息

Saraç Mehmet, Önalan Ebru, Bakal Ünal, Tartar Tugay, Aydın Mustafa, Orman Ayşen, Tektemur Ahmet, Taşkın Erdal, Erol Fatih Serhat, Kazez Ahmet

机构信息

Department of Pediatric Surgery, Firat University Medical Faculty, 23119 Elazig, Turkey.

Department of Medical Biology, Firat University Medical Faculty, Elazig, Turkey.

出版信息

Springerplus. 2016 Oct 3;5(1):1703. doi: 10.1186/s40064-016-3395-7. eCollection 2016.

DOI:10.1186/s40064-016-3395-7
PMID:27757375
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5047867/
Abstract

BACKGROUND

To evaluate whether there is an association between single nucleotide polymorphisms in magnesium-permeable ion channel and development of meningomyelocele (MMC). Therefore, we examined a total of 150 children with MMC, along with age- and gender-matched controls. DNA collected from whole blood was analyzed for the presence of two polymorphisms, rs2274924 (A > G; K1579E; Leu1579Glu) and rs3750425 (G > A; Val1393Ile), in . Serum Mg and calcium levels were also examined.

RESULTS

A statistically significant difference in the distribution of rs2274924 genotypes (p = 0.049) was observed between the groups. Decreases in the AA genotype, and increases in the AG heterozygous genotype were also detected in the study group. The distribution of polymorphisms in the rs3750425 genotype and alleles was not statistically different between groups. Serum Mg levels were lower in the GG genotype of rs3750425 compared with the GA and AA genotypes (p = 0.003).

CONCLUSIONS

A statistically significant difference in rs3750425 genotypes was observed between the patients with MMC and the controls, which corresponded to lower serum Mg concentrations in these patients. Taken together, these results suggest that genetic variations in the Mg-permeable ion channel may play a role in the etiopathogenesis of MMC during embryonic development.

摘要

背景

评估镁离子通透通道单核苷酸多态性与脊髓脊膜膨出（MMC）发生之间是否存在关联。因此，我们共检查了150例MMC患儿以及年龄和性别匹配的对照组。分析从全血中收集的DNA，检测其中两个多态性位点rs2274924（A>G；K1579E；Leu1579Glu）和rs3750425（G>A；Val1393Ile）的存在情况。同时也检测了血清镁和钙水平。

结果

两组间rs2274924基因型分布存在统计学显著差异（p = 0.049）。研究组中还检测到AA基因型减少，AG杂合基因型增加。rs3750425基因型和等位基因的多态性分布在两组间无统计学差异。rs3750425的GG基因型血清镁水平低于GA和AA基因型（p = 0.003）。

结论

MMC患者与对照组之间rs3750425基因型存在统计学显著差异，这与这些患者较低的血清镁浓度相对应。综上所述，这些结果表明镁离子通透通道的基因变异可能在胚胎发育过程中MMC的病因发病机制中起作用。