Decreased telomere length in metaphase and interphase cells from newborns with trisomy 21

Wenger, Sharon L.; Hansroth, Joseph; Shackelford, Amy L.

doi:10.1016/j.gene.2014.03.019

Cited by 9 publications

(4 citation statements)

References 6 publications

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“…Similar results were shown [ 30 , 31 ] for aneuploid oocytes and embryos at the cleavage stage, although the telomere length was aligned at the blastocyst stage. The results of studies of telomere length in newborns with trisomy 21 (Down syndrome) are conflicting - from the claim of shortening [ 47 ] or lack of a likely difference in telomere length [ 48 ] to a probable elongation of telomeres in newborns with trisomy 21 versus newborns without chromosomal anomalies [ 49 ]. Similarly, ambiguous results are obtained in adults with monosomy X (Turner syndrome) [ 50 ], which indicate rather that there is no difference in the length of telomeres in Turner syndrome cells compared to individuals without chromosomal abnormalities.…”

Section: Discussionmentioning

confidence: 99%

Can telomere shortening be the main indicator of non-viable fetus elimination?

et al. 2018

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BackgroundTelomeres are transcriptionally inactive genomic areas, which, if shortened, are associated with pathological processes, unsuccessful fertilization, aging, and death. Telomere dysfunction has also been linked to chromosomal rearrangements and genomic instability. The role of telomeres in postnatal life has been extensively studied and discussed both in physiological as well as in pathological processes. However, the role of telomere length in prenatal development is still poorly understood, and mainly concerns the preimplantation stage. The aim of this study was to estimate relative telomere length in spontaneously eliminated human embryos between 5th and 12th week of gestation.ResultsRelative telomere length was measured from total genomic DNA using a real-time polymerase chain reaction approach. In this study, we examined relative telomere length in 80 spontaneously eliminated embryos and in 25 embryos eliminated due to induced abortions. Relative telomere length in spontaneous abortions was significantly lower (P = 0.000001) compared to the induced abortions. Spontaneous abortions with aneuploid anomalies (monosomy X, trisomy 21, trisomy 16 and triploidy) were characterized by shorter telomeres, compared to spontaneous abortions, subgroup with euploid (46,XN) karyotype.ConclusionSpontaneously lost pregnancies are characterized by shortened telomeres, especially in embryos with aneuploidies. We hypothesize that the shortening of telomeres is involved in the processes leading to spontaneous abortions.

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Section: Discussionmentioning

confidence: 99%

Can telomere shortening be the main indicator of non-viable fetus elimination?

et al. 2018

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“…Previous studies focusing on somatic cells have demonstrated that excessive telomere shortening results in chromosome instability (Blackburn, 2000), but the underlying mechanism remains unclear and discordant findings have been reported. A few studies, on amniocytes and peripheral blood from newborns, have shown a higher rate of telomere shortening in individuals with trisomy 21 (Vaziri et al, 1993;Wenger et al, 2014). Additionally, some invitro experiments have indicated that hematopoietic stem cells under proliferative stress exhibit telomere.…”

Section: Discussionmentioning

confidence: 99%

Investigation of sperm telomere length as a potential marker of paternal genome integrity and semen quality

Cariati

Jaroudi

Alfarawati

et al. 2016

Reproductive BioMedicine Online

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Recent studies have reported shorter sperm telomere length (STL) in men with idiopathic infertility. The aim of this study was to measure STL in semen samples from men to evaluate whether STL variation is associated with chromosomal abnormality, DNA fragmentation, traditional semen parameters, IVF outcome, or all four factors. A significant correlation between telomere length and diploidy was observed (P = 0.037). Additionally, STL was found to be positively associated with sperm count (P = 0.006); oligospermic samples had particularly short telomeres (0.9 ± 0.1 versus 1.4 ± 0.1; P = 0.0019). The results confirmed a link between sperm DNA fragmentation and aneuploidy, previously proposed (P = 0.009). A negative relationship was demonstrated between sperm concentration and aneuploidy and Sperm DNA framentation (P = 0.03, P < 0.0001, respectively). For a subset of 51 of the 73 sperm samples used for fertilization, IVF outcomes were known. A total of 17.6% of these samples had atypical STLs. None of these samples produced an ongoing pregnancy. In contrast, the pregnancy rate for samples that had STLs in the normal range was 35.7% (P = 0.044). In conclusion, STL has potential as a fast and inexpensive form of sperm quality assessment.

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“…They observed that there was no measurable difference in TL among trisomy 18, trisomy 21, and diploid infants. In contrast, some studies showed that normal children have longer TL than children with trisomy 21 ( 81 , 82 ). Thus, the above views on the divergence between TL and trisomy 21 must be further studied.…”

Section: Telomere Dysfunction In Hereditary Diseases Of Childrenmentioning

confidence: 93%

Telomere dysfunction in some pediatric congenital and growth-related diseases

Zheng

2023

Front. Pediatr.

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Telomere wear and dysfunction may lead to aging-related diseases. Moreover, increasing evidence show that the occurrence, development, and prognosis of some pediatric diseases are also related to telomere dysfunction. In this review, we systematically analyzed the relationship between telomere biology and some pediatric congenital and growth-related diseases and proposed new theoretical basis and therapeutic targets for the treatment of these diseases.

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Decreased telomere length in metaphase and interphase cells from newborns with trisomy 21

Cited by 9 publications

References 6 publications

Can telomere shortening be the main indicator of non-viable fetus elimination?

Can telomere shortening be the main indicator of non-viable fetus elimination?

Investigation of sperm telomere length as a potential marker of paternal genome integrity and semen quality

Telomere dysfunction in some pediatric congenital and growth-related diseases

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