Sperm motility is one of the major determinants of male fertility. Since sperm need a great deal of energy to support their fast movement by active metabolism, they are thus extremely vulnerable to oxidative damage by the reactive oxygen species (ROS) and other free radicals generated as byproducts in the electron transport chain. The present study is aimed at understanding the impact of a mitochondrial oxidizing/reducing microenvironment in the etiopathology of male infertility. We detected the mitochondrial DNA (mtDNA) 4,977 bp deletion in human sperm. We examined the gene mutation of ATP synthase 6 (ATPase6 m.T8993G) in ATP generation, the gene polymorphisms of uncoupling protein 2 (UCP2, G-866A) in the uncoupling of oxidative phosphorylation, the role of genes such as manganese superoxide dismutase (MnSOD, C47T) and catalase (CAT, C-262T) in the scavenging system in neutralizing reactive oxygen species, and the role of human 8-oxoguanine DNA glycosylase (hOGG1, C1245G) in 8-hydroxy-2'-deoxyguanosine (8-OHdG) repair. We found that the sperm with higher motility were found to have a higher mitochondrial membrane potential and mitochondrial bioenergetics. The genotype frequencies of UCP2 G-866A, MnSOD C47T, and CAT C-262T were found to be significantly different among the fertile subjects, the infertile subjects with more than 50% motility, and the infertile subjects with less than 50% motility. A higher prevalence of the mtDNA 4,977 bp deletion was found in the subjects with impaired sperm motility and fertility. Furthermore, we found that there were significant differences between the occurrences of the mtDNA 4,977 bp deletion and MnSOD (C47T) and hOGG1 (C1245G). In conclusion, the maintenance of the mitochondrial redox microenvironment and genome integrity is an important issue in sperm motility and fertility.

• MeSH
• DNA-glykosylasy genetika   metabolismus   MeSH
• frekvence genu MeSH
• lidé MeSH
• membránový potenciál mitochondrií účinky léků   MeSH
• mitochondriální DNA genetika   metabolismus   MeSH
• mitochondrie genetika   metabolismus   MeSH
• motilita spermií fyziologie   MeSH
• mužská infertilita genetika   patologie   MeSH
• oxidační stres účinky léků   MeSH
• peroxid vodíku farmakologie   MeSH
• polymorfismus genetický MeSH
• spermie metabolismus   fyziologie   MeSH
• superoxiddismutasa genetika   metabolismus   MeSH
• uncoupling protein 2 genetika   metabolismus   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

The LINC (LInker of Nucleoskeleton and Cytoskeleton) complex is localized within the nuclear envelope and consists of SUN (Sad1/UNc84 homology domain-containing) proteins located in the inner nuclear membrane and KASH (Klarsicht/Anc1/Syne1 homology domain-containing) proteins located in the outer nuclear membrane, hence linking nuclear with cytoplasmic structures. While the nucleoplasm-facing side acts as a key player for correct pairing of homolog chromosomes and rapid chromosome movements during meiosis, the cytoplasm-facing side plays a pivotal role for sperm head development and proper acrosome formation during spermiogenesis. A further complex present in spermatozoa is involved in head-to-tail coupling. An intact LINC complex is crucial for the production of fertile sperm, as mutations in genes encoding for complex proteins are known to be associated with male subfertility in both mice and men. The present review provides a comprehensive overview on our current knowledge of LINC complex subtypes present in germ cells and its central role for male reproduction. Future studies on distinct LINC complex components are an absolute requirement to improve the diagnosis of idiopathic male factor infertility and the outcome of assisted reproduction.

• MeSH
• biologické modely MeSH
• buněčné jádro metabolismus   MeSH
• lidé MeSH
• multiproteinové komplexy metabolismus   MeSH
• mužská infertilita metabolismus   patologie   MeSH
• spermie metabolismus   MeSH
• zvířata MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

Reduced fertility of male mouse hybrids relative to their parents, or hybrid sterility, is governed by the hybrid sterility 1 (Hst1) locus. Rescue experiments with transgenes carrying sequences within or near Hst1 manifested that Hst1 contains the gene encoding meiosis-specific histone methyltransferase PRDM9. The Prdm9 gene is responsible for partial meiotic arrest, testicular atrophy, and low sperm count in (C57BL/6J x PWD)F1 mouse hybrids. Here we report that these male hybrids suffer an additional reproductive disadvantage, decreased sperm quality, which is (i) further exacerbated by the introduction of long transgenes carrying sequences from Hst1 with incomplete Prdm9 into their genome and (ii) controlled by the Prdm9 dosage. These transgenic male hybrids displayed the features of severe oligoasthenoteratozoospermia (OAT), a human infertility syndrome characterized by a low number of spermatozoa with poor motility and morphological abnormalities. Analysis of spermiogenesis in these mice revealed acrosome detachment, aberrant elongation and condensation of the nucleus. As a result, the transgenic sperm had acrosome malformations, abnormal chromatin packaging, and fragmented DNA with elevated base oxidation, revealed by using multiple methods. Heterozygosity for one null Prdm9 allele improved meiotic progression and sperm quality of both non- and transgenic hybrids. Our results indicate that genomic analysis of OAT patients should include consideration of allelic variants in PRDM9, and our transgenic models can serve as tools to understand the diverse molecular processes that, when perturbed, can cause this disease.

• MeSH
• histonlysin-N-methyltransferasa fyziologie   MeSH
• meióza * MeSH
• motilita spermií * MeSH
• mužská infertilita etiologie   metabolismus   patologie   MeSH
• myši inbrední C57BL MeSH
• myši transgenní MeSH
• myši MeSH
• oligospermie etiologie   metabolismus   patologie   MeSH
• regulace genové exprese * MeSH
• zvířata MeSH
• Check Tag
• mužské pohlaví MeSH
• myši MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH

• MeSH
• lidé MeSH
• mužská infertilita * etiologie   patologie   MeSH
• mužské pohlavní orgány patofyziologie   MeSH
• spermatogeneze MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• přehledy MeSH

In the inbred SHR/OlaIpcv rat colony, we identified males with small testicles and inability to reproduce. By selectively breeding their parents, we revealed the infertility to segregate as an autosomal recessive Mendelian character. No other phenotype was observed in males, and females were completely normal. By linkage using a backcross with Brown Norway strain, we mapped the locus to a 1.2Mbp segment on chromosome 7, harboring 35 genes. Sequencing of candidate genes revealed a G to A substitution in a canonical 'AG' splice site of intron 37 in Sbf1 (SET binding factor 1, alias myotubularin-related protein 5). This leads to either skipping exon 38 or shifting splicing one base downstream, invariantly resulting in frameshift, premature stop codon and truncation of the protein. Western blotting using two anti-Sbf1 antibodies revealed absence of the full-length protein in the mutant testis. Testicles of the mutant males were significantly smaller compared with SHR from 4weeks, peaked at 84% wild-type weight at 6weeks and declined afterward to 28%, reflecting massive germ cell loss. Histological examination revealed lower germ cell number; latest observed germ cell stage were round spermatids, resulting in the absence of sperm in the epididymis (azoospermia). SBF1 is a member of a phosphatase family lacking the catalytical activity. It probably modulates the activity of a phosphoinositol phosphatase MTMR2. Human homozygotes or compound heterozygotes for missense SBF1 mutations exhibit Charcot-Marie-Tooth disease (manifested mainly as progressive neuropathy), while a single mouse knockout reported in the literature identified male infertility as the only phenotype manifestation.

• MeSH
• alternativní sestřih genetika   MeSH
• intracelulární signální peptidy a proteiny genetika   MeSH
• krysa rodu rattus MeSH
• mutace genetika   MeSH
• mužská infertilita etiologie   metabolismus   patologie   MeSH
• potkani inbrední SHR MeSH
• regulace genové exprese * MeSH
• zvířata MeSH
• Check Tag
• krysa rodu rattus MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

Pri Huntingtonovej chorobe dochádza ktestikulárnej degenerácii. Tá je následne príčinou zníženej reprodukčnej schopnosti pacientov. Do teraz ale nie je zistená presná príčina spôsobujúca poruchu spermiogenézy. Následnými štúdiami by sa mohla táto príčina objasniť a tým taktiež napomôcť k objasneniu patogenézy mutovaného huntingtínu.

One of the effect of Huntington‘s disease is the testicular degeneration. It causes a reduced reproductive capacity of patients. Unfortunately, up to now the exact cause of the malfunction of spermiogenesis is not know. Subsequent studies could clarify the cause and thus help to clarify the pathogenesis of mutated huntingtin.

• MeSH
• Huntingtonova nemoc * komplikace   patologie   MeSH
• lidé MeSH
• modely nemocí na zvířatech MeSH
• mužská infertilita * diagnóza   genetika   patologie   MeSH
• mužské pohlavní orgány patologie   MeSH
• prasata MeSH
• spermatogeneze MeSH
• spermie patologie   MeSH
• testis patologie   MeSH
• zvířata MeSH
• Check Tag
• lidé MeSH
• zvířata MeSH
• Publikační typ
• práce podpořená grantem MeSH

Analýza spermatu, stanovující přesně koncentraci spermií, pohyblivost a morfologii je základním kamenem pro hodnocení mužské fertility. Jak technika odběru spermatu, tak metody laboratorní analýzy mohou dramaticky ovlivnit výsledky. Analýza spermatu vyžaduje specifické technické dovednosti a cvik, stejně jako neustávající péči o kvalitní hodnocení. Pokročilé metody analýzy spermatu a funkční testy jsou cennými nástroji pro vědecké účely, ale mohou významně přispět také k léčbě infertilního páru. Je důležité podpořit používání standardních postupů, aby mohly být stanoveny referenční hodnoty. To umožní zlepšení srovnatelnosti výsledků mezi různými laboratořemi a zlepšení komunikace mezi laboratorními profesionály, kliniky a pacienty.

Semen analysis, accurately measuring sperm concentration, motility and morphology, is the cornerstone of male fertility assesment. Both the technique of semen collection and the methods of laboratory analysis can influence the results dramatically. Semen analysis requires specific technical skills and training, as well as constant care for quality assurance. Advanced methods of semen analysis and functional tests are valuable instruments for research purposes, but can substantially contribute to the management of the infertile couple. It is important to encourage the use of standard procedures to establish reference values. This will permit improved comparability of results between laboratories and improved communication between laboratory profesionals, clinicians and patients.

• Klíčová slova
• standardní postupy, srovnatelnost výsledků, klinický význam,
• MeSH
• aglutinace spermií fyziologie   MeSH
• analýza spermatu MeSH
• lidé MeSH
• motilita spermií fyziologie   MeSH
• mužská infertilita diagnóza   etiologie   patologie   MeSH
• počet spermií metody   normy   MeSH
• referenční hodnoty MeSH
• směrnice pro lékařskou praxi jako téma MeSH
• sperma cytologie   fyziologie   MeSH
• spermie cytologie   fyziologie   patologie   MeSH
• Check Tag
• lidé MeSH

PROBLEM: The aim of this study was to investigate seminal sperm-agglutinating antibodies, intra-acrosomal proteins, sperm head abnormalities, and cytokines (IL-1beta, IL-2, IL-4, IL-5, IL-6, IL-8, IL-10, IL-12p70 TNF-alpha, and IFN-gamma) in men from infertile couples.

• MeSH
• aglutinace spermií imunologie   MeSH
• akrozom imunologie   MeSH
• autoprotilátky imunologie   MeSH
• cytokiny imunologie   MeSH
• dospělí MeSH
• financování organizované MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužská infertilita imunologie   patologie   MeSH
• spermie imunologie   patologie   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH

Apoptosis associated with programmed cell death plays an essential role in the control of germ cell number in the testes. Although male germ cell apoptosis has been well characterized in different animal models, only a few studies of apoptosis in human testes are presently available. In 43 infertile men with azoospermia of varying aetiology, testicular tissue was obtained by testicular biopsy. Apoptosis of testicular germ cells was determined by the terminal deoxynucleotidyl transferase-mediated dUTP nick end labelling method in situ. Terminal deoxynucleotidyl transferase-mediated dUTP nick end labelling-positive cells were found in the testicular tissue of all patients with azoospermia, except in Sertoli cell-only syndrome. The apoptotic index was higher in germ cell hypoplasia and in normal spermatogenesis in comparison with germ cell arrest. This study was performed to confirm the presence and determine the frequency of apoptosis in infertile men.

• MeSH
• apoptóza fyziologie   genetika   MeSH
• dospělí MeSH
• koncové značení zlomů DNA in situ MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužská infertilita genetika   patofyziologie   patologie   MeSH
• testis cytologie   MeSH
• zárodečné buňky patologie   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH

OBJECTIVE: To determine the location of the corresponding epitope on the tubulin molecule and to find any differences in its exposition in human sperm with normal and pathological spermiograms. The mature spermatozoon exhibits extraordinary structural compartmentalization that is related to the presence of cytoskeletal proteins and has a functional role in connection with fertilization and motility. Previously, we have shown that anti-beta-tubulin antibody TU-12 provided an unexpectedly strong reaction in human and boar sperm head. DESIGN: A retrospective study. SETTING: Academic research laboratories and private IVF center. PATIENT(S): One hundred thirteen men participating in the IVF program. INTERVENTION(S): Sperm were divided into five categories: normozoospermia, oligozoospermia, asthenozoospermia, teratozoospermia, and asthenoteratozoospermia. Well-characterized monoclonal antibodies were applied for monitoring tubulin epitope distributions in pathological spermatozoa. MAIN OUTCOME MEASURE(S): Qualitative and quantitative detection of tubulin. RESULT(S): TU-12 epitope was located in the beta-tubulin region beta 426-435. Immunoblotting revealed differences in the amount of tubulin among men with normozoospermia and pathological spermiogram. Striking differences were observed in the exposition of TU-12 epitope in heads of normal and pathological spermatozoa. CONCLUSION(S): The results suggest that tubulin epitopes could be useful biomarkers of the pathological sperm state.

• MeSH
• biologické markery metabolismus   MeSH
• epitopy biosyntéza   genetika   MeSH
• financování organizované MeSH
• lidé MeSH
• mužská infertilita metabolismus   patologie   MeSH
• regulace genové exprese fyziologie   MeSH
• retrospektivní studie MeSH
• spermie metabolismus   patologie   MeSH
• tubulin biosyntéza   genetika   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• srovnávací studie MeSH