Globozoospermia syndrome: An update

Fesahat, Farzaneh; Henkel, Ralf; Agarwal, Ashok

doi:10.1111/and.13459

Cited by 42 publications

(48 citation statements)

References 82 publications

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“…In general, globozoospermia has been associated with decreased semen quality [ 32 ]. Several papers highlight the presence of a normal semen volume and concentration despite impaired total motility [ 4 , 12 , 33 ], while others indicate that both concentration and progressive motility are reduced in comparison to normozoospermic controls [ 9 , 34 , 35 , 36 , 37 , 38 ].…”

Section: Discussionmentioning

confidence: 99%

Molecular Analysis of DPY19L2, PICK1 and SPATA16 in Italian Unrelated Globozoospermic Men

Faja

Pallotti

Cargnelutti

et al. 2021

Life

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This study aims to evaluate genetic contribution and sperm DNA fragmentation (SDF) in a cohort of 18 unrelated globozoospermic Italian men (Group G). Semen samples were assessed according to the WHO 2010 Laboratory Manual and compared with 31 fertile controls. We focused our genetic analysis on the exons of the main globozoospermia-associated genes, performing qualitative PCR to assess deletion of DPY19L2 and sequencing to detect mutations of SPATA16 and PICK1. SDF was evaluated using the TUNEL assay. In Group G, 10 patients had a complete form of globozoospermia, whereas 8 patients had a partial form. Molecular analysis revealed deletion of DPY19L2 in six of the patients, all of them with complete globozoospermia, while no mutations were found in the examined exons of PICK1 and SPATA16. TUNEL analysis showed a higher SDF% in Group G. Our findings confirm DPY19L2 defects as the most frequent genetic alteration in Italian patients contributing to globozoospermic phenotypes. Furthermore, spermatozoa with acrosomal defects could also display high levels of SDF as a possible consequence of abnormally remodeled chromatin. The possible effect on offspring of chromatin structure abnormalities and altered DNA integrity should be carefully evaluated by clinicians, especially regarding the feasibility and safety of artificial reproductive techniques, which represent the only treatment that allows these patients to conceive.

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Section: Discussionmentioning

confidence: 99%

Molecular Analysis of DPY19L2, PICK1 and SPATA16 in Italian Unrelated Globozoospermic Men

Faja

Pallotti

Cargnelutti

et al. 2021

Life

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“…Sperm is a polarized cell formed by the head and agella; thus, head integrity is essential for normal sperm function. Globozoospermia is a severe and rare form of teratozoospermia that is characterized by a spherical sperm head without an acrosome [13] . The protein encoded by SUN5 plays a crucial role in the meiotic phase of sperm formation and is speci cally expressed in the development of male germ cells.…”

Section: Discussionmentioning

confidence: 99%

Eleven Mutations in Six Genes Causing Abnormal Sperm Morphology: A Case Series

Zhong¹,

Liu²,

Wang³

et al. 2021

Preprint

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Objective: Infertility has become a major health problem worldwide, approximately 10%–15% of male infertility cases can be attributed to genetic mutations. However, the genetic factors contributing to male infertility remain largely unknown. This study aimed to identify genetic mutations associated with morphological abnormalities in sperm.Methods: In this study, we assessed the semen parameters of 60 patients with sperm morphological abnormalities by semen analysis, and subsequently performed targeted next-generation sequencing (NGS) to identify gene mutations. Results: Of the 60 cases of male infertility, 8 individuals (13%) were identified as carrying genetic mutations. In brief, patient 1 carried two heterozygous mutations of SUN5, including c.1066C>T and c.638delC; Patient 2 and Patient 3 had a 109.73 kb homozygous deletion on chromosome 12 in DPY19L2; patient 4 presented two heterozygous mutations (c.1670_1671delinsTT and c.255_258del) of DPY19L2; patient 5 carried a homozygous variant c.1159+1G>A of CCDC40; patient 6 had a heterozygous mutation c.38_43del in the SEPT12 gene; patient 7 had two heterozygous mutations in DNAH1 (c.10060_10061insATCT and c.12278T>C), and patient 8 presented two heterozygous mutations of CFAP43 (c.3658C>T and c.823del). Conclusions: We identified gene mutations associated with sperm morphological abnormalities in a series of male infertility cases. Eight of sixty individuals were identified as carrying gene mutations. Genetic mutations of SUN5, DPY19L2, CCDC40, SEPT12, DNAH1, and CFAP43 might be responsible for male infertility. Our study expanded the landscape of gene mutations related to sperm morphological abnormalities, which might provide new insights into the genetics underlying male infertility.

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“…It is now clear that topoisomerase II mediates DSBs in somatic cells (45). In spermatozoa, supraphysiological ROS levels disturb sperm TOPII, which is involved in the nuclear remodeling via breaking and reconnecting DNA during spermiogenesis, causing large amounts of DNA nicks in elongating spermatids, and finally result in sperm DNA fragmentation (46). Our results showed the higher incidence of sperm with DSB (short Comet tail) as well as relatively lower SSB-DFI could therefore be used to predict the outcome of IVF/ ICSI in globozoospermic spermatozoa, and possibly in other types of teratozoospermia samples.…”

Section: Dna Fragmentations In Spermatozoa Patients and Its Clinical mentioning

confidence: 99%

Association of Zinc deficiency, oxidative stress and increased double-stranded DNA breaks in globozoospermic infertile patients and its implication for the assisted reproductive technique

et al. 2021

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Background: Sperm DNA fragmentation and its adverse impact on outcomes of assisted reproductive techniques (ART) in globozoospermic infertile patients has been previously reported. However, the association of Zinc element with DNA damage and intracytoplasmic sperm injection (ICSI) outcome in globozoospermic infertile patients remains unclear.Methods: Using flame atomic absorption spectrophotometer and superoxide dismutase (SOD) assay, the levels of Cu, Fe, Mn, Zn and SOD activities in seminal plasma from both globozoospermic infertile patients and fertile volunteers were tested respectively. Using sperm chromatin dispersion (SCD) test and Comet assay, the DNA damages in their semen samples from the two groups was detected. In addition, using Aniline Blue staining, their sperm nucleus maturations were also examined. Results:The levels of seminal Zinc and SOD activities were lower in the globozoospermic infertile patients and the double-stranded break DFI (DSB-DFI) were significantly higher than that in the fertile controls. Antioxidative insufficiency of SOD with a low Zn level might be responsible for oxidative stress, which may lead to DNA damage in globozoospermic spermatozoa. Zn deficiency might also have influence on the chromatin stabilization of globozoospermic spermatozoa during spermiogenesis, causing its more vulnerable to oxidative attack.Conclusions: Serious DSBs in globozoospermia and antioxidative insufficiency due to Zinc element deficiency in spermatozoa might be responsible for the failure of ICSI in globozoospermia.

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Globozoospermia syndrome: An update

Cited by 42 publications

References 82 publications

Molecular Analysis of DPY19L2, PICK1 and SPATA16 in Italian Unrelated Globozoospermic Men

Molecular Analysis of DPY19L2, PICK1 and SPATA16 in Italian Unrelated Globozoospermic Men

Eleven Mutations in Six Genes Causing Abnormal Sperm Morphology: A Case Series

Association of Zinc deficiency, oxidative stress and increased double-stranded DNA breaks in globozoospermic infertile patients and its implication for the assisted reproductive technique

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