Accelerated telomere shortening in individuals with intellectual disability
Presentation
Paper/Presentation Title | Accelerated telomere shortening in individuals with intellectual disability |
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Presentation Type | Presentation |
Authors | Hanley, Sarah M., Schutte, Nicola S. and Denham, Joshua |
Number of Pages | 1 |
Year | 2023 |
Place of Publication | Australia |
Web Address (URL) of Conference Proceedings | https://australiancellcycle.org/program/ |
Conference/Event | 18th Australian Cell Cycle, DNA repair and Telomere Meeting |
Event Details | 18th Australian Cell Cycle, DNA repair and Telomere Meeting ACDTM 2023 Delivery In person Event Date 23 Oct 2023 to end of 25 Nov 2023 Event Location Melbourne, Australia Event Venue Melbourne Museum Event Web Address (URL) |
Abstract | Telomeres maintain genomic stability by safeguarding the chromosomes from DNA damage and fusion events. Telomere length and the rate of telomere attrition are important factors regulating health and lifespan. For instance, many age-related chronic diseases are linked to short dysfunctional telomeres. Individuals with intellectual disability (ID) have intellectual quotients below 70 and suffer terrible health inequities compared to the general population. Indeed, they exhibit a higher prevalence of chronic disease and die prematurely. Here, we performed a systematic review and meta-analysis examining telomere length and telomere attrition in individuals with ID. The cohort of 387 individuals with ID (diagnosed with either Down [DS], 5–p, Williams-Beuren, Nicolaides-Baraitser or Hoyeraal-Hreidarsson [HH] syndrome) possessed shorter telomeres than 505 age-matched healthy controls (SMD [95%CI]: -0.90 [-1.61–-0.19], p=0.01). An increased effect size was noted after the exclusion of infants (≤1 y with DS) (-1.59 [-2.28–-0.91], p<0.001). Furthermore, individuals with DS and HH exhibited a faster rate of telomere attrition compared to healthy controls (0.5–2.1-fold). Regardless of the genetic heterogeneity of syndromes associated with ID, our findings suggest telomeres are, on average, shorter in patients compared to age-matched controls. While the genetic irregularities impacting telomere length in HH are obvious (e.g. DKC1, TERT, TERC, RTEL1 mutations), the genetic (gene dosage, rare mutations, etc) and environmental factors governing telomere length in other syndromes associated with ID should be investigated. This may uncover novel therapeutic strategies, including both pharmaceutical and tailored lifestyle interventions, aimed at improving the health and wellbeing of individuals with ID. |
Contains Sensitive Content | Does not contain sensitive content |
ANZSRC Field of Research 2020 | 310508. Genome structure and regulation |
329999. Other biomedical and clinical sciences not elsewhere classified | |
Public Notes | Files associated with this item cannot be displayed due to copyright restrictions, but may be accessed online. Please see the link in the URL field. |
Byline Affiliations | Department of Education, Queensland |
University of New England | |
School of Health and Medical Sciences | |
Centre for Health Research |
https://research.usq.edu.au/item/z2z61/accelerated-telomere-shortening-in-individuals-with-intellectual-disability
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