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Biomedicines
Special Issues
Telomere Biology in Human Health, Aging and Diseases
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Telomere Biology in Human Health, Aging and Diseases

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Cell Biology and Pathology".

Deadline for manuscript submissions: 30 September 2024 | Viewed by 1217

Special Issue Editors

Dr. Michael Fossel

E-Mail Website
Guest Editor
Telocyte LLC, Grand Rapids, MI, USA
Interests: telomeres; telomerase; dementia; gene therapy; Alzheimer’s; age-related disease; cardiovascular disease
Dr. Kurt Whittemore

E-Mail Website
Guest Editor
Harvard Medical School, Boston, MA, USA
Interests: telomeres; telomerase; aging; gene and cell therapies

Special Issue Information

Dear Colleagues,

The cascade of events that occur during cell aging—the process underlying all age-related diseases—is complex, but a unified model is not only feasible but offers optimal clinical targets, such as the telomere. This issue focuses on the role of telomere loss in modulating cell aging and age-related diseases, as well as on the potential to intervene effectively to prevent and cure such age-related diseases through the use of telomerase and similar approaches to effectively reverse cell aging.

Dr. Michael Fossel
Dr. Kurt Whittemore
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Biomedicines is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • telomere
  • telomerase
  • gene therapy
  • age-related disease
  • dementia
  • cardiovascular disease
  • osteoarthritis
  • osteoporosis
  • renal aging
  • cell aging
  • cell senescence
  • epigenetics
  • mitochondria
  • aging

Published Papers (1 paper)

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Research

18 pages, 2747 KiB  
Article
Telomere Dysfunction in Pediatric Patients with Differences/Disorders of Sexual Development
by Haifaou Younoussa, Macoura Gadji, Mamadou Soumboundou, Bruno Colicchio, Ahmed Said, Ndeye Aby Ndoye, Steffen Junker, Andreas Plesch, Leonhard Heidingsfelder, Ndeye Rama Diagne, Alain Dieterlen, Philippe Voisin, Patrice Carde, Eric Jeandidier and Radhia M’kacher
Biomedicines 2024, 12(3), 565; https://doi.org/10.3390/biomedicines12030565 - 2 Mar 2024
Viewed by 860
Abstract
Differences/Disorders of sex development (DSDs) are conditions in which the development of chromosomal, gonadal, and anatomical sexes is atypical. DSDs are relatively rare, but their incidence is becoming alarmingly common in sub-Saharan Africa (SSA). Their etiologies and mechanisms are poorly understood. Therefore, we [...] Read more.
Differences/Disorders of sex development (DSDs) are conditions in which the development of chromosomal, gonadal, and anatomical sexes is atypical. DSDs are relatively rare, but their incidence is becoming alarmingly common in sub-Saharan Africa (SSA). Their etiologies and mechanisms are poorly understood. Therefore, we have investigated cytogenetic profiles, including telomere dysfunction, in a retrospective cohort of Senegalese DSD patients. Materials and methods: Peripheral blood lymphocytes were sampled from 35 DSD patients (mean age: 3.3 years; range 0–18 years) admitted to two hospital centers in Dakar. Peripheral blood lymphocytes from 150 healthy donors were used as a control. Conventional cytogenetics, telomere, and centromere staining followed by multiplex FISH, as well as FISH with SRY-specific probes, were employed. Results: Cytogenetic analysis identified 19 male and 13 female patients with apparently normal karyotypes, two patients with Turner syndrome, and one patient with Klinefelter syndrome. Additional structural chromosome aberrations were detected in 22% of the patients (8/35). Telomere analysis revealed a reduction in mean telomere lengths of DSD patients compared to those of healthy donors of similar age. This reduction in telomere length was associated with an increased rate of telomere aberrations (telomere loss and the formation of telomere doublets) and the presence of additional chromosomal aberrations. Conclusions: To the best of our knowledge, this study is the first to demonstrate a correlation between telomere dysfunction and DSDs. Further studies may reveal the link between telomere dysfunction and possible mechanisms involved in the disease itself, such as DNA repair deficiency or specific gene mutations. The present study demonstrates the relevance of implementing telomere analysis in prenatal tests as well as in diagnosed genetic DSD disorders. Full article
(This article belongs to the Special Issue Telomere Biology in Human Health, Aging and Diseases)
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