Genetic aspects of idiopathic asthenozoospermia as a cause of male infertility

Heidary, Zohreh; Saliminejad, Kioomars; Zaki‐Dizaji, Majid; Khorshid, Hamid Reza Khorram

doi:10.1080/14647273.2018.1504325

Cited by 35 publications

(35 citation statements)

References 160 publications

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“…Asthenozoospermia, defined by the absence or reduction of sperm motility, is observed in nearly 80% of male infertility cases, either alone or in association with other sperm defects 1 . This pathophysiological condition is induced by structural defects of the sperm flagellum and/or functional alterations impairing flagellar beating and sperm progression.…”

Section: Introductionmentioning

confidence: 99%

“…1, 7,8 Importantly, asthenozoospermia is also detected in the complete absence of morphological defects, suggesting the involvement of functional defects in activation and/or regulation of flagellar beating. To date, such cases of functional asthenozoospermia remain poorly characterized, and only a few mutations were identified in genes encoding for proteins with enzymatic properties ( GALNTL5 ), seminal components ( SEMG1 ) and ion channels ( CATSPER1‐2‐ε , SLC26A3 , VDAC2 ) 1,9‐12 . Overall, the knowledge obtained by studying those sperm pathological phenotypes provides evidence that, in addition to proper morphology and structure, sperm fertilization potential relies on proper activation of the signalling pathways regulating motility, metabolism and energy production.…”

Section: Introductionmentioning

confidence: 99%

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The sodium/proton exchanger SLC9C1 (sNHE) is essential for human sperm motility and fertility

et al. 2021

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Asthenozoospermia, defined by the absence or reduction of sperm motility, constitutes the most frequent cause of human male infertility. This pathological condition is caused by morphological and/or functional defects of the sperm flagellum, which preclude proper sperm progression. While in the last decade many causal genes were identified for asthenozoospermia associated with severe sperm flagellar defects, the causes of purely functional asthenozoospermia are still poorly defined. We describe here the case of an infertile man, displaying asthenozoospermia without major morphological flagellar anomalies and carrying a homozygous splicing mutation in SLC9C1 (sNHE), which we identified by whole‐exome sequencing. SLC9C1 encodes a sperm‐specific sodium/proton exchanger, which in mouse regulates pH homeostasis and interacts with the soluble adenylyl cyclase (sAC), a key regulator of the signalling pathways involved in sperm motility and capacitation. We demonstrate by means of RT‐PCR, immunodetection and immunofluorescence assays on patient's semen samples that the homozygous splicing mutation (c.2748 + 2 T > C) leads to in‐frame exon skipping resulting in a deletion in the cyclic nucleotide‐binding domain of the protein. Our work shows that in human, similar to mouse, SLC9C1 is required for sperm motility. Overall, we establish a homozygous truncating mutation in SLC9C1 as a novel cause of human asthenozoospermia and infertility.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

The sodium/proton exchanger SLC9C1 (sNHE) is essential for human sperm motility and fertility

et al. 2021

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“…Primer infertilite, en az bir yıl süre ile korunmadan, düzenli cinsel ilişkiye rağmen gebelik oluşmaması olarak tanımlanır (1). İnfertil çiftlerin yaklaşık yarısında erkek faktörleri etkili, yaklaşık %15'inde kadın ve erkek faktörleri birlikte görülür (2). Erkek infertilitesi genellikle oligozoospermi, düşük sperm motilitesi ve morfolojik anormallikler nedeniyle ortaya çıkar (3).…”

Section: Introductionunclassified

Trakya Bölgesi̇ Erkek İnferti̇li̇te Olgularinda Y Kromozom Mi̇krodelesyonlari Ve Si̇togeneti̇k Anomali̇leri̇n Sikliği: Tek Merkez Deneyi̇mi̇

Yalçıntepe¹,

Eker²,

Gürkan³

2021

J Istanb Fac Med

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Amaç: Y kromozom mikrodelesyonları dahil olmak üzere genetik faktörler erkek infertilitesi olgularının yaklaşık %10'undan sorumludur ve özellikle azoospermi veya ciddi oligozoospermi ile ilişkilidir. Çalışmamızda Trakya bölgesi'nde Y kromozom mikrodelesyon sıklığını saptamak ve AZF mikrodelesyonu olan infertil erkek olgularda heterojen fenotip hakkında bilgi sunmak amaçlanmıştır. Gereç ve Yöntem: Trakya Üniversitesi Hastanesi Tıbbi Genetik Anabilim Dalı Genetik Hastalıklar Değerlendirme Merkezi Polikliniği'ne 2011-2019 yılları arasında infertilite nedeni ile müracaat eden, non-obstruktif azoospermik veya oligozoospermik 446 erkek olguda konvansiyonel sitogenetik yöntemle karyotip analizi ve Y kromozom mikrodelesyon analizi yapıldı.

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“…[ 47 ] AZS can not just be considered as a simple condition in isolated diseases, on the contrary, it is always associated with a comprehensive symptom. [ 48 ] Hence, patients with AZS represent a very diverse group actually, and treating this particular patient group is not an easy task. Some scholars found that food supplements may improve seminal fluid conditions by providing energy to male germ cells and protecting these cells from oxidative stress.…”

Section: Discussionmentioning

confidence: 99%

Yishentongluo decoction in treatment of idiopathic asthenozoospermia infertility

Zhang

Fan

Li³

et al. 2020

Medicine

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Background: The reproductive dilemma faced by men has always been the focus of the whole society. Idiopathic asthenozoospermia (AZS), as one of the common causes of male infertility, lack of specific treatment. Traditional Chinese medicine has shown potential benefits in the management of male infertility. Yishentongluo decoction (YSTL) is a representative Chinese herbal formula; however, there is still no rigorous clinical trial supporting its application. Therefore, we designed a randomized controlled trial to evaluate the efficacy and safety of YSTL for patients with idiopathic AZS and explain the possible action mechanisms of YSTL in improving sperm motility. Methods: In this randomized controlled study, a total of 160 eligible patients will be assigned to YSTL group or the Levocarnitine oral solution group in a 1:1 ratio. The treatment period will be 12 weeks and the follow-up period will last 4 weeks. The primary outcome will be the the progressive (motility), sperm rate (%). Secondary outcomes will include the progressive (motility) + non-progressive (motility) sperm rate(%), total effective sperm count, inner mitochondrial membrane potential (MMP) in spermatozoa, and spouse pregnancy rate (%). Safety outcomes will cover electrocardiogram , blood tests (including blood routine test, hepatic function, and renal function), urine routine test, and stool routine test. The semen parameters, sperm MMP test, and all the safety outcomes will be performed at the baseline, 4th, 8th and 12th week. The pregnancy outcome will be evaluated at 4 weeks after treatment. Discussion: This study will provide initial evidence regarding the efficacy and safety of YSTL in the treatment of idiopathic AZS with kidney deficiency and blood stasis pattern. In addition, potential mechanisms of YSTL in improving sperm motility will be explored based on sperm MMP test. Trial registration: Chinese Clinical Trials Register identifier, ChiCTR2000033290, registered on 26 May 2020.

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Genetic aspects of idiopathic asthenozoospermia as a cause of male infertility

Cited by 35 publications

References 160 publications

The sodium/proton exchanger SLC9C1 (sNHE) is essential for human sperm motility and fertility

The sodium/proton exchanger SLC9C1 (sNHE) is essential for human sperm motility and fertility

Trakya Bölgesi̇ Erkek İnferti̇li̇te Olgularinda Y Kromozom Mi̇krodelesyonlari Ve Si̇togeneti̇k Anomali̇leri̇n Sikliği: Tek Merkez Deneyi̇mi̇

Yishentongluo decoction in treatment of idiopathic asthenozoospermia infertility

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