Two cases of sperm immotility: a mosaic of flagellar alterations related to dysplasia of the fibrous sheath and abnormalities of head-neck attachment

Moretti, Elena; Geminiani, Michela; Terzuoli, Gaia; Renieri, Tommaso; Pascarelli, Nicola Antonio; Collodel, Giulia

doi:10.1016/j.fertnstert.2010.11.027

Cited by 34 publications

(41 citation statements)

References 24 publications

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“…Among all reported human cases of acephalic spermatozoa, only several displayed acephalic spermatozoa with full penetrance (∼100% headless), with the rest displaying various percentages of acephalic spermatozoa (5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19). Similarly, mice lacking Odf1 or Oaz3 also display acephalic spermatozoa with partial penetrance (21,22).…”

Section: Discussionmentioning

confidence: 99%

“…To delineate the developmental process of the connecting piece during late spermiogenesis, we analyzed the ultrastructure of elongating (steps 9-12) and elongated spermatids (steps [13][14][15][16], as well as epididymal spermatozoa in WT and KO mice (Fig. 4A).…”

Section: Significancementioning

confidence: 99%

“…Numerous cases of acephalic spermatozoa have been reported in teratozoospermic patients (5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19). In these patients, the major anomaly lies in headless spermatozoa in the ejaculate, and the headless spermatozoa were initially called "pinhead sperm" because the investigators mistakenly regarded the retained cytoplasmic droplets, which are usually attached to the midprincipal piece junction of the flagella, as the heads of reduced size (8,13,14).…”

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confidence: 99%

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Spata6is required for normal assembly of the sperm connecting piece and tight head–tail conjunction

Yuan

Stratton

Bao

et al. 2015

Proc. Natl. Acad. Sci. U.S.A.

135

116

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"Pinhead sperm," or "acephalic sperm," a type of human teratozoospermia, refers to the condition in which ejaculate contains mostly sperm flagella without heads. Family clustering and homogeneity of this syndrome suggests a genetic basis, but the causative genes remain largely unknown. Here we report that Spata6, an evolutionarily conserved testis-specific gene, encodes a protein required for formation of the segmented columns and the capitulum, two major structures of the sperm connecting piece essential for linking the developing flagellum to the head during late spermiogenesis. Inactivation of Spata6 in mice leads to acephalic spermatozoa and male sterility. Our proteomic analyses reveal that SPATA6 is involved in myosin-based microfilament transport through interaction with myosin subunits (e.g., MYL6).M ale gametes-spermatozoa-are produced in the testis through a process termed spermatogenesis, which can be divided into three phases: mitotic, meiotic, and haploid (1). In the mitotic phase, spermatogonial stem cells proliferate and differentiate into spermatogonia, which subsequently enter the meiotic phase and become spermatocytes. Spermatocytes undergo crossover, followed by two consecutive meiotic cell divisions to produce haploid spermatids. Spermatids then undergo a multistep differentiation process, also called spermiogenesis, to form spermatozoa. Severe disruptions in either the mitotic or the meiotic phase tend to cause azoospermia, whereas spermiogenic defects often lead to reduced sperm counts, aberrant sperm motility, and deformed spermatozoa, a condition termed oligoasthenoteratozoospermia (OAT) in humans (2, 3).OAT accounts for a significant proportion of male idiopathic infertility cases (2, 4). Numerous cases of acephalic spermatozoa have been reported in teratozoospermic patients (5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19). In these patients, the major anomaly lies in headless spermatozoa in the ejaculate, and the headless spermatozoa were initially called "pinhead sperm" because the investigators mistakenly regarded the retained cytoplasmic droplets, which are usually attached to the midprincipal piece junction of the flagella, as the heads of reduced size (8,13,14). Extensive ultrastructral studies on humans and animals with acephalic spermatozoa suggest that this condition results from defects in formation of the connecting piece of spermatozoa during late spermiogenesis, including failure for the proximal centrioles to attach normally to the caudal portion of the sperm nuclei, leading to abnormal head-midpiece alignment, or a nuclear defect that interferes with formation of the implantation fossa, the normal lodging site for the sperm proximal centriole (16). Aberrant formation of the connecting piece leads to independent development of the sperm heads and flagella, and eventually these structures become separated within the seminiferous tubules or during their transition through the seminal tract as a consequence of increased instability of the head-midpiece junction (16,18)....

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Section: Discussionmentioning

confidence: 99%

Section: Significancementioning

confidence: 99%

mentioning

confidence: 99%

See 1 more Smart Citation

Spata6is required for normal assembly of the sperm connecting piece and tight head–tail conjunction

Yuan

Stratton

Bao

et al. 2015

Proc. Natl. Acad. Sci. U.S.A.

135

116

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“…Mean values (SD) of the semen variables and of the percentage of sperm with grade 1 AQP7 localization in the total of the 32 subjects considered in this study, in the 5 out of 32 ejaculates treated with swim up method, and in the 15 out of 32 samples processed for TEM (TEM indices: Fertility index, % Immaturity, % Necrosis, and % Apoptosis). AQP7 in human sperm 131 dysplasia of the fibrous sheath and abnormalities of headneck attachment, two defects of possible genetic origin characterised by TEM [Moretti et al 2011]. Diffuse AQP7 labeling was located in the short, thick tail where the marked hypertrophy and hyperplasia of the fibrous sheath were the common characteristics ( Fig.…”

Section: Aqp7 Labeling and Semen Characteristicsmentioning

confidence: 97%

Immunolocalization of aquaporin 7 in human sperm and its relationship with semen parameters

Moretti

Terzuoli²,

Mazzi³

et al. 2011

Systems Biology in Reproductive Medicine

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Aquaporins (AQPs) are a family of 13 small hydrophobic transmembrane proteins expressed in numerous tissues and cells. Some AQPs work as strict water channels, others are permeable to a range of substances, including glycerol. In the male reproductive system their localization in testis, efferent ducts, epididymis, and spermatozoa has been described. We studied the distribution of AQP7 in ejaculated human sperm and the relationship between AQP7 labeling and sperm characteristics. Semen samples from 33 men were examined by light and transmission electron microscopy (TEM). TEM data were quantified using a mathematical formula that calculates a fertility index (FI) and the percentages of sperm apoptosis, immaturity, and necrosis. Immunocytochemistry with a polyclonal antibody anti-AQP7 was performed on the sperm samples. Normal sperm were labeled in the pericentriolar area, midpiece, equatorial segment, and weakly in the tail (grade 1). Abnormal sperm showed a diffuse low intensity of fluorescence evident in the cytoplasmic residues, coiled tails, in the entire head, and acrosome (grade 2). A high number of motile sperm obtained by swim up were labeled in a dotted manner in the mitochondria. A significant positive correlation was found between the spermatozoa with AQP7 grade 1 labeling and the percentage of normal form (P < 0.008), progressive motility and FI (P < 0.005); a negative correlation was noted with the percentages of cytoplasmic residues (P < 0.010) and immaturity (P < 0.006) and coiled tails (P < 0.012). The link between AQP7 distribution and sperm morphology and the particular dotted labeling in swim up selected motile sperm are novel and deserve additional studies.

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“…Bacceti et al, [14] reported a large series of 12 patients with DFS sperm defects while Mitchell et al, [43] investigated ICSI outcomes for 21 patients with distinct ultrastructural flagellar abnormalities, 12 of them presented with "short tail" syndrome. Rawe et al, [19] and Moretti et al, [20] have reported respectively one and two cases of DFS sperm defect associated with acephalic sperm and abnormal head-tail attachment.…”

Section: Discussionmentioning

confidence: 99%

Meiotic segregation and sperm DNA fragmentation in Tunisian men with dysplasia of the fibrous sheath (DFS) associated with head abnormalities

Ghédir

Mehri

Mogharrabi

et al. 2014

J Assist Reprod Genet

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Purpose Dysplasia of the Fibrous Sheath (DFS) is a primitive flagellar pathology for which a broad spectrum of ultrastructural flagellar abnormalities has been described responsible for a severe to total asthenozoospermia. To this phenotype other morphological abnormalities including cephalic and abnormalities in nuclear structure can be associated that could compromise embryonic development in case of use of Assisted Reproductive Technology (ART). The aim of this study was to evaluate the level of DNA fragmentation and aneuploidy rate in ejaculated spermatozoa of Tunisian men presented with DFS sperm defect associated to high percentage of head abnormalities and to compare the results with those from fertile men. Methods Sperm DNA fragmentation was evaluated by the terminal desoxynucleotidyl transferase mediated deoxyuridine triphosphate biotin nick-end labelling (TUNEL) assay. The study of meiotic segregation was performed by Fluorescence in situ hybridization (FISH) for chromosomes X, Y and 18. Results The mean DNA fragmentation index was significantly higher in patients compared to the control group. FISH revealed a significantly higher incidence of sperm aneuploidies compared with controls. All patients showed elevated frequencies of sex chromosomes disomy, disomy 18 and diploidy. Conclusions In some cases of syndromic teratozoospermia due to sperm tail structural abnormalities, such as DFS, other morphological cephalic abnormalities may be associated. In these cases we have demonstrated impaired sperm nuclear quality which will affect the results in ICSI. Hence the interest of a thorough study of the sperm nucleus in these forms of infertility in order to predict the chances of success in ART.

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Two cases of sperm immotility: a mosaic of flagellar alterations related to dysplasia of the fibrous sheath and abnormalities of head-neck attachment

Cited by 34 publications

References 24 publications

Spata6is required for normal assembly of the sperm connecting piece and tight head–tail conjunction

Spata6is required for normal assembly of the sperm connecting piece and tight head–tail conjunction

Immunolocalization of aquaporin 7 in human sperm and its relationship with semen parameters

Meiotic segregation and sperm DNA fragmentation in Tunisian men with dysplasia of the fibrous sheath (DFS) associated with head abnormalities

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