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Dr. Jess Buxton

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Department of Biomolecular Sciences, School of Life Sciences, Pharmacy and Chemistry, Faculty of Science, Engineering and Computing, Kingston University, London, UK
Interests: telomeres; ageing; epigenetics

Special Issue Information

Dear Colleagues,

Telomeres are protective nucleoprotein structures that cap the ends of linear chromosomes to prevent degradation and fusion. Vertebrate telomeres are composed of variable numbers of a tandem repeat sequence, (TTAGGG)n, bound to the shelterin protein complex. In most somatic cells, telomeres become progressively shorter with each cell division due to the inherent properties of linear DNA replication. This process is attenuated in germ cells and, to a lesser extent, in stem cells by the action of the enzyme telomerase. Mutations in key telomere maintenance genes are associated with rare inherited disorders characterized by extremely short, dysfunctional telomeres and shared clinical features such bone marrow failure.

A shorter mean leukocyte telomere length (LTL) is associated with the risk of common age-related conditions such as coronary artery disease and chronic obstructive pulmonary disease. The relationship between telomere length and neoplastic disease is more complex, with a shorter LTL being associated with an increased risk of some cancers and a decreased risk of others. Recent genetic studies suggest a causal role for telomere length in the onset and progression of these conditions, although the underlying mechanismas are poorly understood. A better understanding of the pathways underlying telomere maintenance and its role in age-related disease risk will pave the way for novel treatments and interventions that support healthy ageing.

This Special Issue focuses on the role of telomere length and integrity in human disease. We invite authors to submit relevant articles or review papers for inclusion.

Dr. Jess Buxton
Guest Editor

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Keywords

telomeres
ageing
senescence
genomics

Published Papers (2 papers)

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Research

14 pages, 1969 KiB

Open AccessArticle

Telomere Distribution in Human Sperm Heads and Its Relation to Sperm Nuclear Morphology: A New Marker for Male Factor Infertility?

by Kara J. Turner, Eleanor M. Watson, Benjamin M. Skinner and Darren K. Griffin

Int. J. Mol. Sci. 2021, 22(14), 7599; https://doi.org/10.3390/ijms22147599 - 15 Jul 2021

Cited by 5 | Viewed by 2064

Abstract

Infertility is a problem affecting an increasing number of couples worldwide. Currently, marker tests for male factor infertility are complex, highly technical and relatively subjective. Up to 40% of cases of male factor infertility are currently diagnosed as idiopathic therefore, there is a clear need for further research into better ways of diagnosing it. Changes in sperm telomere length have been associated with infertility and closely linked to DNA damage and fragmentation, which are also known to be related to infertility. However, telomere distribution is a parameter thus far underexplored as an infertility marker. Here, we assessed morphological parameters of sperm nuclei in fertile control and male factor infertile cohorts. In addition, we used 2D and 3D fluorescence in situ hybridization (FISH) to compare telomere distribution between these two groups. Our findings indicate that the infertile cohort sperm nuclei were, on average, 2.9% larger in area and showed subtle differences in sperm head height and width. Telomeres were mainly distributed towards the periphery of the nuclei in the control cohort, with diminishing telomere signals towards the center of the nuclei. Sperm nuclei of infertile males, however, had more telomere signals towards the center of the nuclei, a finding supported by 3D imaging. We conclude that, with further development, both morphology and telomere distribution may prove useful investigative tools in the fertility clinic. Full article

(This article belongs to the Special Issue Telomeres and Human Disease)

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15 pages, 577 KiB

Open AccessArticle

Telomere Length and Male Fertility

by Manuel Gentiluomo, Alice Luddi, Annapaola Cingolani, Marco Fornili, Laura Governini, Ersilia Lucenteforte, Laura Baglietto, Paola Piomboni and Daniele Campa

Int. J. Mol. Sci. 2021, 22(8), 3959; https://doi.org/10.3390/ijms22083959 - 12 Apr 2021

Cited by 19 | Viewed by 2609

Abstract

Over the past decade, telomeres have attracted increasing attention due to the role they play in human fertility. However, conflicting results have been reported on the possible association between sperm telomere length (STL) and leukocyte telomere length (LTL) and the quality of the sperm parameters. The aim of this study was to run a comprehensive study to investigate the role of STL and LTL in male spermatogenesis and infertility. Moreover, the association between the sperm parameters and 11 candidate single nucleotide polymorphisms (SNPs), identified in the literature for their association with telomere length (TL), was investigated. We observed no associations between sperm parameters and STL nor LTL. For the individual SNPs, we observed five statistically significant associations with sperm parameters: considering a p < 0.05. Namely, ACYP2˗rs11125529 and decreased sperm motility (p = 0.03); PXK˗rs6772228 with a lower sperm count (p = 0.02); NAF1˗rs7675998 with increased probability of having abnormal acrosomes (p = 0.03) and abnormal flagellum (p = 0.04); ZNF208˗rs8105767 and reduction of sperms with normal heads (p = 0.009). This study suggests a moderate involvement of telomere length in male fertility; however, in our analyses four SNPs were weakly associated with sperm variables, suggesting the SNPs to be pleiotropic and involved in other regulatory mechanisms independent of telomere homeostasis, but involved in the spermatogenic process. Full article

(This article belongs to the Special Issue Telomeres and Human Disease)

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