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

doi:10.1016/j.gene.2014.03.019

Gene

Volume 542, Issue 1, 25 May 2014, Page 87

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Acknowledgments

In part supported by NIH grants P20RR016477 and P20GM103434 to the West Virginia IDeA Network for Biomedical Research Excellence.

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Telomere lengths at birth in trisomies 18 and 21 measured by Q-FISH
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Telomere shortening in T cells correlates with Alzheimer's disease status
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Cited by (9)

Telomere length analysis in Down syndrome birth
2017, Mechanisms of Ageing and Development
Citation Excerpt :
Gruszecka et al. (2015) showed that juvenile DS patients have longer telomeres than age matched control. Whereas, Wenger et al. (2014) found shorter telomere in DS babies. Longitudinal study with adult DS patients revealed that telomere shortening can be a potent biomarker for their dementia status (Jenkins et al., 2006; Jenkins et al., 2012).
Human reproductive fitness depends upon telomere chemistry. Maternal age, meiotic nondisjunction error and telomere length of mother of trisomic child are someway associated. Reports exhibiting maternal inheritance of telomere length in Down syndrome child are very scanty. To investigate this, we collected peripheral blood from 170 mothers of Down syndrome child and 186 age matched mothers of euploid child with their newly born babies. Telomere length was measured by restriction digestion – southern blotting technique. Meiotic nondisjunction error was detected by STR genotyping. Subjects are classified by age (old >35 years and young ˂35 years) and by meiotic error (MI and MII). Linear regression was run to explore the age – telomere length relationship in each maternal groups. The study reveals that with age, telomere erodes in length. Old MII mothers carry the shortest (p ˂ 0.001), control mothers have the longest telomere and MI lies in between. Babies from older mother have longer telomere (p ˂ 0.001) moreover; telomeres are longer in Down syndrome babies than control babies (p ˂ 0.001). To conclude, this study represents not only the relation between maternal aging and telomere length but also explore the maternal heritability of telomere length in families with Down syndrome child.
Investigation of sperm telomere length as a potential marker of paternal genome integrity and semen quality
2016, Reproductive BioMedicine Online
Citation Excerpt :
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 in-vitro experiments have indicated that hematopoietic stem cells under proliferative stress exhibit shorter telomeres and chromosomal instability (Thomay et al., 2014).
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.
Telomere dysfunction in some pediatric congenital and growth-related diseases
2023, Frontiers in Pediatrics
Reduced telomere length in amniocytes: An early biomarker of abnormal fetal development?
2022, Human Molecular Genetics
Down syndrome, ageing and epigenetics
2019, Subcellular Biochemistry
Can telomere shortening be the main indicator of non-viable fetus elimination?
2018, Molecular Cytogenetics

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Letter to the EditorDecreased telomere length in metaphase and interphase cells from newborns with trisomy 21

Section snippets

Acknowledgments

American Journal of Human Genetics

Neuroscience Letters

Gene

Neurobiology of Aging

Letter to the Editor
Decreased telomere length in metaphase and interphase cells from newborns with trisomy 21