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Asada, Hironori; Sueoka, Kou; Hashiba, Tsuyoshi; Kuroshima, Masako; Kobayashi, Noriko; Yoshimura, Yasunori

doi:10.1023/a:1009454114973

Cited by 43 publications

(4 citation statements)

References 40 publications

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“…Our AGES study with Ϸ90 men of whom 25 were over the age of 60 is the largest investigation to date of the association between age and frequencies of aneuploid and diploid sperm for genotypes linked to Klinefelter, triple X, XYY, Turner, and Down syndromes, and triploid pregnancies. Several earlier studies found small inconsistent associations with age, generally based on fewer than 40 men with few men over 60 and using a variety of assay methods (12,(58)(59)(60)(61)(62)(63)(64)(65). The lack of association between age and Klinefelter sperm (X-Y-21) in the AGES group is inconsistent with our earlier positive finding in fathers of boys with Klinefelter syndrome (12), both of which were analyzed by using the same assay in the laboratory of A.J.W.…”

Section: Ach and Asmentioning

confidence: 99%

Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm

Wyrobek

Eskenazi

Young

et al. 2006

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

366

206

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This study compares the relative effects of advancing male age on multiple genomic defects in human sperm [DNA fragmentation index (DFI), chromatin integrity, gene mutations, and numerical chromosomal abnormalities], characterizes the relationships among these defects and with semen quality, and estimates the incidence of susceptible individuals for a well characterized nonclinical nonsmoking group of 97 men (22-80 years). Adjusting for confounders, we found major associations between age and the frequencies of sperm with DFI and fibroblast growth factor receptor 3 gene (FGFR3) mutations associated with achondroplasia (P < 0.01) with no evidence for age thresholds. However, we found no associations between age and the frequencies of sperm with immature chromatin, aneuploidies͞diploidies, FGFR2 mutations (Apert syndrome), or sex ratio in this cohort. There were also no consistent correlations among genomic and semen-quality endpoints, except between DFI and sperm motility (r ‫؍‬ ؊0.65, P < 0.001). These findings suggest there are multiple spermatogenic targets for genomically defective sperm with substantially variable susceptibilities to age. Our findings predict that as healthy males age, they have decreased pregnancy success with trends beginning in their early reproductive years, increased risk for producing offspring with achondroplasia mutations, and risk of fathering offspring with Apert syndrome that may vary across cohorts, but with no increased risk for fathering aneuploid offspring (Down, Klinefelter, Turner, triple X, and XYY syndromes) or triploid embryos. Our findings also suggest that the burden of genomic damage in sperm cannot be inferred from semen quality, and that a small fraction of men are at increased risk for transmitting multiple genetic and chromosomal defects.DNA fragmentation ͉ human sperm ͉ achondroplasia ͉ sperm FISH ͉ Apert syndrome I t has become more socially acceptable to delay fatherhood, but the heritable consequences of this trend remain poorly understood. Since 1980, U.S. birth rates have increased up to 40% for men 35-49 years and have decreased up to 20% for men under 30 (1). Although it is well known that as women age, they are at increased risk for infertility, spontaneous abortion, and genetic and chromosomal defects among offspring, the association of male aging with these outcomes has been less well characterized (2).Advancing paternal age has been implicated in a broad range of abnormal reproductive and genetic outcomes (3, 4), including diminished semen quality (5), reduced fertility (6), increased frequencies of spontaneous abortions (7, 8), Ϸ20 autosomal dominant diseases including achondroplasia (ACH) and Apert syndrome (AS; see refs. 3 and 9), and several diseases of complex etiology such as schizophrenia (10). Among transmitted chromosomal defects, sex-chromosomal aneuploidy syndromes show substantial paternal contributions with some evidence of paternal-age effects (11-13).However, the mechanisms for age dependency of paternally transmitted genomic defects are ...

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Section: Ach and Asmentioning

confidence: 99%

Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm

Wyrobek

Eskenazi

Young

et al. 2006

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

366

206

View full text Add to dashboard Cite

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“…1995 ). There was also a significant relationship established between increasing paternal age and XY disomy ( Asada et al . 2000 ).…”

Section: Male Gamete Bioassaysmentioning

confidence: 94%

Intracytoplasmic sperm injection: state of the art in humans

et al. 2017

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Among infertile couples, 25% involve both male and female factors, while male factor alone accounts for another 25% due to oligo-, astheno-, teratozoospermia, a combination of the three, or even a complete absence of sperm cells in the ejaculate and can lead to a poor prognosis even with the help of assisted reproductive technology (ART). Intracytoplasmic sperm injection (ICSI) has been with us now for a quarter of a century and in spite of the controversy generated since its inception, it remains in the forefront of the techniques utilized in ART. The development of ICSI in 1992 has drastically decreased the impact of male factor, resulting in millions of pregnancies worldwide for couples who, without ICSI, would have had little chance of having their own biological child. This review focuses on the state of the art of ICSI regarding utility of bioassays that evaluate male factor infertility beyond the standard semen analysis and describes the current application and advances in regard to ICSI, particularly the genetic and epigenetic characteristics of spermatozoa and their impact on reproductive outcome.

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“…The accumulation of heavy metals in an organism and the impact of free radicals can cause immunogenetic disorders, chromosomal aberrations and consequently lead to serious genetic defects, causing infertility include numerical and structural aberrations that may affect autosomes or sex chromosomes [65][66][67][68]. Chromosomal aberrations appear in 7% of infertile men, that is 30 times more frequently than in the general population [69,70].…”

Section: Genetic Effectsmentioning

confidence: 99%

“…The most common chromosomal cause of male infertility is Klinefelter syndrome (>4%) [71]. In this disease, similarly to Turner syndrome, partial fertility is maintained only in mosaicism [66,72]. In Klinefelter syndrome changes in nuclear structure leading to infertility may be a result of the presence of two alleles of many genes associated with the X chromosome, which typically operate on the principle of disomy and do not undergo inactivation during lyonization of extra chromosome.…”

Section: Genetic Effectsmentioning

confidence: 99%

External and Genetic Conditions Determining Male Infertility

Kamiński

Baszyński

Jerzak

et al. 2020

IJMS

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We explain environmental and genetic factors determining male genetic conditions and infertility and evaluate the significance of environmental stressors in shaping defensive responses, which is used in the diagnosis and treatment of male infertility. This is done through the impact of external and internal stressors and their instability on sperm parameters and their contribution to immunogenetic disorders and hazardous DNA mutations. As chemical compounds and physical factors play an important role in the induction of immunogenetic disorders and affect the activity of enzymatic and non-enzymatic responses, causing oxidative stress, and leading to apoptosis, they downgrade semen quality. These factors are closely connected with male reproductive potential since genetic polymorphisms and mutations in chromosomes 7, X, and Y critically impact on spermatogenesis. Microdeletions in the Azoospermic Factor AZF region directly cause defective sperm production. Among mutations in chromosome 7, impairments in the cystic fibrosis transmembrane conductance regulator CFTR gene are destructive for fertility in cystic fibrosis, when spermatic ducts undergo complete obstruction. This problem was not previously analyzed in such a form. Alongside karyotype abnormalities AZF microdeletions are the reason of spermatogenic failure. Amongst AZF genes, the deleted in azoospermia DAZ gene family is reported as most frequently deleted AZF. Screening of AZF microdeletions is useful in explaining idiopathic cases of male infertility as well as in genetic consulting prior to assisted reproduction. Based on the current state of research we answer the following questions: (1) How do environmental stressors lessen the quality of sperm and reduce male fertility; (2) which chemical elements induce oxidative stress and immunogenetic changes in the male reproductive system; (3) how do polymorphisms correlate with changes in reproductive potential and pro-antioxidative mechanisms as markers of pathophysiological disturbances of the male reproductive condition; (4) how do environmental stressors of immunogenetic disorders accompany male infertility and responses; and (5) what is the distribution and prevalence of environmental and genetic risk factors.

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Abstract: The incidence of nondisjunction of paternal sex chromosome in meiosis I was higher in older men with idiopathic infertility. The present results suggest that the risk of producing XXY fetuses is higher among men > 39 years of age with idiopathic infertility.

Cited by 43 publications

References 40 publications

Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm

Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm

Intracytoplasmic sperm injection: state of the art in humans

External and Genetic Conditions Determining Male Infertility

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