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伊朗男性中环带缺失与弱精子症之间的关系。

Relationship between absence of annulus and asthenozoospermia in Iranian men.

作者信息

Hosseinifar Hani, Shafipour Maryam, Modarresi Tahereh, Azad Mahnaz, Sadighi Gilani Mohammad Ali, Shahhosseini Maryam, Sabbaghian Marjan

机构信息

Department of Andrology at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.

出版信息

J Assist Reprod Genet. 2014 Dec;31(12):1681-5. doi: 10.1007/s10815-014-0353-6. Epub 2014 Oct 10.

DOI:10.1007/s10815-014-0353-6
PMID:25301271
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4250465/
Abstract

PURPOSE

To find a relationship between absence of annulus and asthenozoospermia in Iranian men.

METHODS

In the present study, semen samples from 100 asthenozoospermic and 20 normozospermic patients were analyzed for sperm concentration and motility. Spermatozoa were immunostained for the two septin subunits Sept4 and Sept7. The absence of the annulus structure was confirmed by transmission electron microscopy and western blot analysis for septin 4. DNA sequencing for all coding exons of SEPT12 was performed for a patient using peripheral blood sample.

RESULTS

Specific antibodies for SEPT4 and SEPT7 consistently labeled the annuli in spermatozoa from all of the 20 normozospermic men, while in one of 100 patients with asthenozoospermia, 75% of sperms lacking septin 4 or septin 7 proteins at the annulus. It was shown that the structural defect in annulus formation is not caused by point mutation of SEPT12 gene.

CONCLUSIONS

In conclusion, the results of this study demonstrated that the frequency of the absence of annulus in asthenozoospermic sample of Iranian population has a low frequency and could not be assume as a diagnostic marker for classifying asthenozoospermic patients.

摘要

目的

探寻伊朗男性中环缺失与弱精子症之间的关系。

方法

在本研究中,对100例弱精子症患者和20例正常精子症患者的精液样本进行精子浓度和活力分析。对精子进行Sept4和Sept7这两种septin亚基的免疫染色。通过透射电子显微镜和septin 4的蛋白质印迹分析确认环结构的缺失。使用外周血样本对一名患者的SEPT12所有编码外显子进行DNA测序。

结果

SEPT4和SEPT7的特异性抗体始终标记20例正常精子症男性所有精子中的环,而在100例弱精子症患者中的1例中,75%的精子在环处缺乏septin 4或septin 7蛋白。结果表明,环形成的结构缺陷不是由SEPT12基因的点突变引起的。

结论

总之,本研究结果表明,伊朗人群弱精子症样本中环缺失的频率较低,不能将其作为弱精子症患者分类的诊断标志物。

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Relationship between absence of annulus and asthenozoospermia in Iranian men.伊朗男性中环带缺失与弱精子症之间的关系。
J Assist Reprod Genet. 2014 Dec;31(12):1681-5. doi: 10.1007/s10815-014-0353-6. Epub 2014 Oct 10.
2
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SEPT12 phosphorylation results in loss of the septin ring/sperm annulus, defective sperm motility and poor male fertility.SEPT12磷酸化导致septin环/精子环缺失、精子活力缺陷和男性生育能力低下。
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Biallelic loss-of-function mutations in SEPTIN4 (C17ORF47), encoding a conserved annulus protein, cause thin midpiece spermatozoa and male infertility in humans.SEPTIN4(C17ORF47)中的双等位基因功能丧失突变,该基因编码一种保守的环带蛋白,导致人类中段精子变薄和男性不育。
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[Expression of SEPT4 protein in the ejaculated sperm of idiopathic asthenozoospermic men].[SEPT4蛋白在特发性弱精子症男性射出精子中的表达]
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SEPT12 orchestrates the formation of mammalian sperm annulus by organizing core octameric complexes with other SEPT proteins.SEPT12通过与其他SEPT蛋白组织核心八聚体复合物来协调哺乳动物精子环的形成。
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Regulation of septin phosphorylation: SEPT12 phosphorylation in sperm septin assembly.调节隔蛋白磷酸化:精子隔蛋白组装中的 SEPT12 磷酸化。
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本文引用的文献

1
SEPTIN12 genetic variants confer susceptibility to teratozoospermia.SEPTIN12 基因变异与畸形精子症易感性相关。
PLoS One. 2012;7(3):e34011. doi: 10.1371/journal.pone.0034011. Epub 2012 Mar 30.
2
SEPT12 mutations cause male infertility with defective sperm annulus.SEPT12 突变导致精子环缺陷的男性不育症。
Hum Mutat. 2012 Apr;33(4):710-9. doi: 10.1002/humu.22028. Epub 2012 Feb 20.
3
Single-nucleotide polymorphisms in the SEPTIN12 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome.SEPTIN12基因中的单核苷酸多态性可能是日本唯支持细胞综合征患者的遗传危险因素。
J Androl. 2012 May-Jun;33(3):483-7. doi: 10.2164/jandrol.110.012146. Epub 2011 Jun 2.
4
Distinct roles of septins in cytokinesis: SEPT9 mediates midbody abscission. septin 在胞质分裂中的作用不同:SEPT9 介导中体分离。
J Cell Biol. 2010 Nov 15;191(4):741-9. doi: 10.1083/jcb.201006031. Epub 2010 Nov 8.
5
SEPT12 deficiency causes sperm nucleus damage and developmental arrest of preimplantation embryos.SEPT12 缺失导致精子核损伤和着床前胚胎发育停滞。
Fertil Steril. 2011 Jan;95(1):363-5. doi: 10.1016/j.fertnstert.2010.07.1064.
6
The expression pattern of SEPT7 correlates with sperm morphology.SEPT7 的表达模式与精子形态相关。
J Assist Reprod Genet. 2010 Jun;27(6):299-307. doi: 10.1007/s10815-010-9409-4. Epub 2010 Mar 30.
7
The annulus of the mouse sperm tail is required to establish a membrane diffusion barrier that is engaged during the late steps of spermiogenesis.小鼠精子尾部的纤维鞘对于建立一个膜扩散屏障是必需的,该屏障在精子发生的晚期步骤中被募集。
Biol Reprod. 2010 Apr;82(4):669-78. doi: 10.1095/biolreprod.109.079566. Epub 2009 Dec 30.
8
The expression level of septin12 is critical for spermiogenesis.Septin12的表达水平对精子发生至关重要。
Am J Pathol. 2009 May;174(5):1857-68. doi: 10.2353/ajpath.2009.080955. Epub 2009 Apr 9.
9
Absence of annulus in human asthenozoospermia: case report.人类弱精子症中无环状结构:病例报告。
Hum Reprod. 2009 Jun;24(6):1296-303. doi: 10.1093/humrep/dep020. Epub 2009 Feb 15.
10
Septins as diagnostic markers for a subset of human asthenozoospermia.Septins作为人类少弱精子症一个亚组的诊断标志物。
J Urol. 2008 Dec;180(6):2706-9. doi: 10.1016/j.juro.2008.08.005. Epub 2008 Oct 31.