Seven primary familial brain calcification genes have been identified but their role in disease mechanisms has been less explored. Cheng et al. recently demonstrated that astrocyte-mediated regulation of brain phosphate (P) involves direct and functional interactions among three of these proteins, paving the way for new strategies to combat brain calcification.
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Oxidative Stress Biomarkers in Hypertension.
Curr Med Chem
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3rd Department of Cardiology, General Hospital of Thoracic Diseases 'Sotiria', National and Kapodistrian University of Athens, School of Medicine, Athens, Greece.
Arterial hypertension is a silent and progressive disease with deleterious vascular implications on all target organs, including the heart, the brain, the kidneys, and the eyes. Oxidative stress, defined as the overproduction of Reactive Oxygen Species (ROS) over antioxidants, is capable of deteriorating not only the normal endothelial but also the cellular function with further cardiovascular implications. Xanthine oxidase activity, NADPH oxidase overexpression, and ROS production lead to hypertension and high arterial tone, culminating in end-organ damage.
View Article and Find Full Text PDFP-ecing together brain calcification mechanisms for therapeutic advancement.
Trends Mol Med
January 2025
Department of Biomedicine, University of Bergen, Bergen, Norway. Electronic address:
Seven primary familial brain calcification genes have been identified but their role in disease mechanisms has been less explored. Cheng et al. recently demonstrated that astrocyte-mediated regulation of brain phosphate (P) involves direct and functional interactions among three of these proteins, paving the way for new strategies to combat brain calcification.
View Article and Find Full Text PDFStructural insights into the mechanism of phosphate recognition and transport by XPR1.
Nat Commun
January 2025
National Key Laboratory of Crop Genetic Improvement, Hubei Hongshan Laboratory, Huazhong Agricultural University, Wuhan, China.
XPR1 is the sole protein known to transport inorganic phosphate (Pi) out of cells, a function conserved across species from yeast to mammals. Human XPR1 variants lead to cerebral calcium-phosphate deposition and primary familial brain calcification (PFBC), a hereditary neurodegenerative disorder. Here, we present the cryo-EM structure of human XPR1 in both its Pi-unbound and various Pi-bound states.
View Article and Find Full Text PDFBrain calcification in congenital heart defects and ectodermal dysplasia (CHDED).
Eur J Med Genet
December 2024
Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan. Electronic address:
Article Synopsis
- CHDED (Congenital Heart Defect and Ectodermal Dysplasia) is an autosomal dominant disorder linked to the PRKD1 gene, characterized by heart issues and ectodermal abnormalities.
- A case study of a 9-month-old Japanese girl demonstrated brain calcifications and seizures, revealing a new pathogenic variant in the PRKD1 gene.
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Brain macrophages in vascular health and dysfunction.
Trends Immunol
December 2024
Institute of Experimental Immunology, University of Zurich, Zurich, Switzerland. Electronic address:
Diverse macrophage populations inhabit the rodent and human central nervous system (CNS), including microglia in the parenchyma and border-associated macrophages (BAMs) in the meninges, choroid plexus, and perivascular spaces. These innate immune phagocytes are essential in brain development and maintaining homeostasis, but they also play diverse roles in neurological diseases. In this review, we highlight the emerging roles of CNS macrophages in regulating vascular function in health and disease.
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