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Genetic architecture of white matter microstructure captured by unsupervised deep representation learning of fractional anisotropy maps

2 weeks 2 days ago
Fractional anisotropy (FA) from diffusion MRI is a widely used marker of white matter (WM) integrity, but conventional FA-based genetic studies typically rely on tract- or atlas-defined averages that may obscure spatially distributed WM variation and limit genetic discovery. Here, we propose a deep learning framework, termed unsupervised deep representation of WM (UDR-WM), which uses voxel-wise FA maps to derive brain-wide unsupervised deep imaging phenotypes (UDIP-FA) without prior anatomical...
Xingzhong Zhao

Charting the human-specific properties of gene expression networks in the infant prefrontal cortex

2 weeks 2 days ago
Human infancy is characterized by protracted brain development coinciding with sensitive periods of extensive synaptic remodeling. Whether this is supported by human infant-specific transcriptional programs is unknown as comparative material in closely related primate species was unavailable. Here, we analyze rare newborn chimpanzee and age-matched human and rhesus macaque brain samples using single-cell transcriptomics and epigenomics. We identify a human infant-specific transcriptional program...
Jonathan Klavert

LKB1 inactivation elicits an NNMT-mediated methyl sink and confers dependence on PRMT5 in lung cancer

2 weeks 2 days ago
The protein arginine methyl transferase 5 (PRMT5) emerges as a therapeutic target in S-methyl-5'-thioadenosine phosphorylase (MTAP)-deleted cancers, where 5'-methylthioadenosine (MTA) accumulation partially inhibits its activity. However, it remains unclear whether other genetic alterations can dictate PRMT5 activity in cancer. Here, we identify liver kinase B1 (LKB1) as an alternative predictor of PRMT5 inhibition in lung cancer independent of MTAP. Mechanistically, LKB1 loss activates...
Wen Mi

Post-traumatic stress disorder moderates the association between BrainAge acceleration and GrimAge acceleration

2 weeks 2 days ago
Individuals with post-traumatic stress disorder (PTSD) are at higher risk for age-related physical comorbidities, such as cardiovascular disorders, and exhibit accelerated epigenetic and brain aging. The present study examined PTSD as a moderator of the association between DNA methylation (DNAm)-based systemic aging (GrimAge, PhenoAge) and brain aging, indexed by MRI-based and DNAm-derived BrainAge estimates, in 174 lifetime PTSD cases and 138 trauma-exposed controls from four cohorts....
Jenna Beakas

The effect of a complex intervention for older adults on medication adequacy: results from the + AGIL Barcelona program

2 weeks 2 days ago
CONCLUSIONS: While the + AGIL Barcelona program had a limited quantitative impact on polypharmacy, it significantly reduced PIMs' use, particularly in nervous system-acting medications, which are involved in increased risk of falling and cognitive impairment in older adults. The study highlights the importance of medication review in multidimensional frailty management, although future research with larger samples and standardized medication review protocols is needed.
Francesco Salis

Factors associated with the engagement in meaningful activity and occupational balance in institutionalised older adults: a prospective observational cohort study

2 weeks 2 days ago
CONCLUSIONS: These findings underscore the need to review the type and range of activities offered in institutional settings, reducing time devoted to highly structured leisure activities and promoting more enriching experiences. To do so, experience-based co-design approaches involving institutionalised older adults and professionals in these settings are essential to develop person-centred programmes to enhance engagement in meaningful activities and occupational balance. Future research...
Rafael Prieto-Moreno