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Bipolar disorder (BD) has been associated with premature cellular aging with shortened telomere length (TL) as compared to the general population. We recently identified a subgroup of young individuals with prematurely shortened TL. The aims of the present study were to replicate this observation in a larger sample and analyze the expression levels of genes associated with age or TL in a subsample of these individuals. TL was measured on peripheral blood DNA using quantitative polymerase chain reaction in a sample of 542 individuals with BD and clustering analyses were performed. Gene expression level of 29 genes, associated with aging or with telomere maintenance, was analyzed in RNA samples from a subsample of 129 individuals. Clustering analyses identified a group of young individuals (mean age 29.64 years), with shorter TL. None of the tested clinical variables were significantly associated with this subgroup. Gene expression level analyses showed significant downregulation of MYC, POT1, and CD27 in the prematurely aged young individuals compared to the young individuals with longer TL. After adjustment only POT1 remained significantly differentially expressed between the two groups of young individuals. This study confirms the existence of a subgroup of young individuals with BD with shortened TL. The observed decrease of POT1 expression level suggests a newly described cellular mechanism in individuals with BD, that may contribute to telomere shortening.
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http://dx.doi.org/10.1038/s41398-024-02824-z | DOI Listing |
Clin Genet
September 2025
Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
LONP1 encodes a mitochondrial protease essential for protein quality control and metabolism. Variants in LONP1 are associated with a diverse and expanding spectrum of disorders, including Cerebral, Ocular, Dental, Auricular, and Skeletal anomalies syndrome (CODAS), congenital diaphragmatic hernia (CDH), and neurodevelopmental disorders (NDD), with some individuals exhibiting features of mitochondrial encephalopathy. We report 16 novel LONP1 variants identified in 16 individuals (11 with NDD, 5 with CDH), further expanding the clinical spectrum.
View Article and Find Full Text PDFBehav Res Methods
September 2025
Laboratoire de Psychologie, Université de Bordeaux, LabPsy UR 4139, 3 Place de la Victoire, 33076, Bordeaux Cedex, France.
This article presents a new set of semantic feature production norms, collected from 580 young adults, for 360 French concepts across various semantic categories. Although empirically derived feature norms have been developed for several languages and have been shown to be useful for investigating semantic memory and providing assessment tools, none are currently available for native French-speaking populations. In this study, the participants performed a property generation task in which they were asked to list features to describe the characteristics of each given concept (e.
View Article and Find Full Text PDFPharmacoepidemiol Drug Saf
September 2025
Sanofi, Cambridge, Massachusetts, USA.
Purpose: Given the increased likelihood for individuals with severe asthma to experience comorbidities, disease complications, emergency room visits, and hospitalizations, the ability to stratify asthma populations on severity is often important. Although pharmacoepidemiologic studies using administrative healthcare databases sometimes categorize asthma severity, there is no consensus on an approach.
Methods: Individuals with asthma (≥ 2 ICD-10-CM diagnosis codes J45) aged ≥ 6 years were identified in Optum's de-identified Clinformatics Data Mart Database between January 2017 and November 2023.
J Sci Med Sport
August 2025
Eastern Health Clinical School, Monash University, Australia; Eastern Health Emergency Medicine Program, Australia. Electronic address:
Objectives: To explore differences in beliefs towards running in adults with and without chronic low back pain.
Design: This convergent mixed methods cross-sectional study compared adults with chronic low back pain (n = 39) to pain-free adults with a history of chronic low back pain (n = 28) and a low back pain naive control group (n = 71).
Methods: Beliefs towards running (activity specific beliefs questionnaire; range: 1-4 points), pain intensity (101-point visual analogue scale), disability (Oswestry Disability Index), and habitual physical activity (International Physical Activity Questionnaire) were analysed.
Physiol Rep
September 2025
School of Kinesiology and Health Studies, Queen's University, Kingston, Ontario, Canada.
The present investigation sought to determine the cardiovascular responses to a commercially available KAATSU cuff system with rhythmic cuff inflation-deflation periods during leg exercise. Seventeen participants performed two-legged knee flexion/extension exercise at 25% of peak work rate (WR) with bilateral KAATSU cuffs applied to the proximal thigh (KAATSU) or work-rate matched control exercise (CTL). During KAATSU trials, the cuffs were set to Cycle Mode (repeated 30-s inflation; 5-s deflation) at progressively increasing cuff pressure (150-220 mmHg).
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