Increased Frequency of Aneuploidy in Long-Lived Spermatozoa

You, Young Ah; Park, Yoo Jin; Kwon, Woo-Sung; Yoon, Se-Jin; Ryu, Buom‐Yong; Kim, Young Ju; Pang, Myung-Geol

doi:10.1371/journal.pone.0114600

Cited by 9 publications

(5 citation statements)

References 35 publications

(40 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…This phenomenon leads to an increase in aneuploid spermatozoa which increases the risk of genetic abnormalities to embryos and offspring [ 36 ]. A recent study has shown that spermatozoa with aneuploidy of a sex chromosome can be longer-lived than spermatozoa with autosome aneuploidy [ 18 ]. Because long-lived aneuploid spermatozoa could have a greater chance of fertilizing oocytes, they may cause an increased risk of transmitting sex chromosome aneuploidies of paternal origin to their offspring [ 18 , 37 ].…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population

et al. 2016

View full text Add to dashboard Cite

BackgroundX&Y chromosomal aneuploidies are among the most common human whole-chromosomal copy number changes, but the population-based incidence and prevalence in the child-bearing population is unclear.MethodsThis retrospective analysis of prospectively collected data leveraged a routine non-invasive prenatal test (NIPT) using parental genotyping to estimate the population-based incidence of X&Y chromosome variations in this population referred for NIPT (generally due to advanced maternal age).ResultsFrom 141,916 women and 29,336 men, 119 X&Y chromosomal abnormalities (prevalence: 1 in 1,439) were identified. Maternal findings include: 43 cases of 45,X (40 mosaic); 30 cases of 47,XXX (12 mosaic); 3 cases of 46,XX uniparental disomy; 2 cases of 46,XY/46,XX; 23 cases of mosaicism of unknown type; 2 cases of 47,XX,i(X)(q10). Paternal findings include: 2 cases of 47,XXY (1 mosaic); 10 cases of 47,XYY (1 mosaic); 4 partial Y deletions.ConclusionsSingle chromosome aneuploidy was present in one of every 1,439 individuals considered in this study, showing 47,XXX; 47,XX,i(X)(q10); 47,XYY; 47,XXY, partial Y deletions, and a high level of mosaicism for 45,X. This expands significantly our understanding of X&Y chromosomal variations and fertility issues, and is critical for families and adults affected by these disorders. This current and extensive information on fertility will be beneficial for genetic counseling on prenatal diagnoses as well as for newly diagnosed postnatal cases.

show abstract

Section: Discussionmentioning

confidence: 99%

“…However, approximately 80% of sex chromosome aneuploidies are paternal in origin: 6% of 47, XXX; 50% of 47, XXY; 80% of 45, X; and 100% of 47, XYY cases [ 15 – 17 ]. Studies have shown that an increased frequency of sperm aneuploidy is associated with male infertility [ 18 ].…”

Section: Introductionmentioning

confidence: 99%

Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population

et al. 2016

View full text Add to dashboard Cite

show abstract

“…Combination of the current omics and conventional semen analysis could provide new methods for exploring potential predictors of male fertility [ 101 ]. Research focuses on the differentially expressed proteins and genes found under different conditions including fertility/infertility [ 107 108 ]. During the past decade, protein biomarkers have been the subject of extensive research for diversified diseases as well as male fertility.…”

Section: Future Diagnostic Tests For Male Fertility: Omicsmentioning

confidence: 99%

Clinical assessment of the male fertility

2018

Self Cite

View full text Add to dashboard Cite

The evaluation of infertility in males consists of physical examination and semen analyses. Standardized semen analyses depend on the descriptive analysis of sperm motility, morphology, and concentration, with a threshold level that must be surpassed to be considered a fertile spermatozoon. Nonetheless, these conventional parameters are not satisfactory for clinicians since 25% of infertility cases worldwide remain unexplained. Therefore, newer tests methods have been established to investigate sperm physiology and functions by monitoring characteristics such as motility, capacitation, the acrosome reaction, reactive oxygen species, sperm DNA damage, chromatin structure, zona pellucida binding, and sperm-oocyte fusion. After the introduction of intracytoplasmic sperm injection technique, sperm maturity, morphology, and aneuploidy conditions have gotten more attention for investigating unexplained male infertility. In the present article, recent advancements in research regarding the utilization of male fertility prediction tests and their role and accuracy are reviewed.

show abstract

“…The third goal to improve our study would be to investigate male parents more extensively, while the majority of sex chromosome aneuploidies in live births have a paternal origin. You YA et al study revealed the novel finding that the frequency of aneuploid spermatozoa with fertilization capability significantly increased compared to that of euploid spermatozoa over 3 days, suggesting that aneuploid spermatozoa can survive longer than euploid spermatozoa and have a greater chance of fertilizing oocytes [11]. Different preconceptional factors should be discussed including al environmental factors [12].…”

Section: Discussionmentioning

confidence: 97%

Impact of Cosmobiological Factors on Chromosomal Anomalies Rates - Ethical Consideration

Serapinas

Narbekovas²

2022

JAMMR

View full text Add to dashboard Cite

Backround: In recent years, there is an increasing number of data supporting the relation between lunar cycle and alterations in human body. For instance, it has been proved that hospitalized spontaneous abortions are significantly associated with the lunar cycle . Given that the most common cause of spontaneous abortion is chromosomal abnormalities of the embryo, we presumed that the lunar cycle could influence the occurrence of chromosomal diseases. From the point of bioethics it is a question if it is applicable to talk with patients about possible impact of cosmobiological factors on their case of chromosomal anomaly. Patients and Methods: We have selected 52 patients, who were bearing a fetus with a prenatally diagnosed chromosomal disorder, which included Down, Turner, Klinefelter, Patau and Edward syndromes. The control group (n=92) consisted of families, that were prenatally tested for chromosomal abnormalities and the results were negative. Then we gathered and analyzed information from patients' medical histories about various factors, which could have predisposed chromosomal disorders: age of both progenitors, consumption of medications during pregnancy, number of miscarriages, number of abortions, cases of genetic disorders in relatives, lunar phase on the day of conception. Results: Lunar phases at the time of conception in the test group distributed as following: new Moon 32.7 percent, first quarter 25.0 percent, full Moon 28.8 percent, third quarter 13.5 percent. In the control group lunar phases distributed as following: new Moon 29.3 percent, first quarter 27.2 percent, full Moon 26.1 percent, third quarter 17.4 percent. There was observed no statistically significant difference between test and control groups (p>0.05). OR for conception with chromosomal anomalies were increased in July (2.7(CI 95% 1.5-4.9) and December (3.2 (CI 95% 1.5-5.2) (p<0.05). OR showed decreased risk for chromosomal anomalies during conception at January (0.3 (CI 95% 0.1-0.7) , April (0.5 (CI 95% 0.2-0.7) and June 0.5 (CI 95% 0.2-0.8) (p<0.05). Conclusions: Our study showed there were no associations between lunar phase at the time of conception with the rates of chromosomal mutations. Conception in July and December increases the risk of chromosomal anomalies during conception. In contrast conception in January, April and June decreases chromosomal anomalies rates.

show abstract

Increased Frequency of Aneuploidy in Long-Lived Spermatozoa

Cited by 9 publications

References 35 publications

Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population

Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population

Clinical assessment of the male fertility

Impact of Cosmobiological Factors on Chromosomal Anomalies Rates - Ethical Consideration

Contact Info

Product

Resources

About