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http://dx.doi.org/10.1007/s10143-024-02754-w | DOI Listing |
bioRxiv
August 2025
University Medical Center Utrecht, UMC Brain Center, Department of Psychiatry, Utrecht, The Netherlands.
Background: White matter in the human brain is known to play a critical role in facilitating communication between different brain regions. White matter microstructure is often quantified using fractional anisotropy (FA) derived from diffusion-weighted MRI and is often considered a key measure of neural efficiency that is positively associated with motor and cognitive functioning. While lifespan trajectories of FA have been well studied in cross-sectional designs, it remains less clear how FA changes longitudinally with age across the lifespan, and whether the rates of change are influenced by genetic variation.
View Article and Find Full Text PDFBrain
August 2025
Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, 2610, Antwerp, Belgium.
Defects in mitochondrial dynamics are a common cause of Charcot-Marie-Tooth disease (CMT), while primary deficiencies in the mitochondrial respiratory chain (MRC) are rare and atypical for this etiology. This study aims to report COX18 as a novel CMT-causing gene. This gene encodes an assembly factor of mitochondrial Complex IV (CIV) that translocates the C-terminal tail of MTCO2 across the mitochondrial inner membrane.
View Article and Find Full Text PDFImaging Neurosci (Camb)
October 2024
Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research (CNCR), Amsterdam Neuroscience, VU Amsterdam, Amsterdam, The Netherlands.
The concept of excitation/inhibition (E/I) balance plays an important role in understanding brain function in health and disease. We recently introduced an algorithm to determine a functional E/I ratio based on the critical brain dynamics that emerge in neuronal networks balancing between order and disorder. Little, however, is known about the frequency specificity of E/I regulation and how to measure it.
View Article and Find Full Text PDFNat Commun
August 2025
Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA.
In this study, we generated and integrated plasma proteomics and metabolomics with the genotype datasets of over 2300 European (EUR) and 400 African (AFR) ancestries to identify ancestry-specific multi-omics quantitative trait loci (QTLs). In total, we mapped 954 AFR pQTLs, 2848 EUR pQTLs, 65 AFR mQTLs, and 490 EUR mQTLs. We further applied these QTLs to ancestry-stratified type-2 diabetes (T2D) risk to pinpoint key proteins and metabolites underlying the disease-associated genetic loci.
View Article and Find Full Text PDFAlzheimers Dement (N Y)
August 2025
Introduction: Although hallmarked by β-amyloid plaques (Aβ) and neurofibrillary tangles (tau), Alzheimer's disease (AD) is a multifactorial disorder that involves neuroinflammation, neurodegeneration, and synaptic dysfunction. AD-associated biomolecular changes seem to be attenuated in carriers of the functionally advantageous variant of the gene (KL-VS). Independently, better cardiorespiratory fitness (CRF) is associated with better health outcomes related to AD pathology.
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