Researchers have identified bi-allelic variants in the POPDC2 gene as the cause of a rare inherited cardiac syndrome characterized by sinus node dysfunction, atrioventricular (AV) conduction defects and hypertrophic cardiomyopathy.
Abdominal aortic aneurysm is a life-threatening cardiovascular disease characterized by chronic inflammation and irreversible dilatation of the abdominal aorta and is asymptomatic at the early stages of the disease, with diagnosis usually relying on imaging techniques and surgery being the main approach for treating it.
Hypertensive nephropathy is a major complication of hypertension characterized by inflammation and fibrosis in the kidneys. Recent findings have suggested that agrin may play a critical role in some tissue types such as in the heart or skeletal muscle.
The switch will be flicked today to make the world’s largest dementia-related proteomics dataset freely available to researchers, at the same time as members of the consortium which compiled it publish the proteomics signatures of major neurodegenerative diseases that they uncovered in a first trawl of the data.
FAST kinase domain-containing protein 5 (FASTKD5) is a mitochondrial protein that is needed for processing mRNA in the primary mitochondrial transcript. Several mutations have been found in other proteins involved in mitochondrial metabolism, but mutations in the FASTKD5 gene have not yet been reported.
Lung cancer is the second most frequent cancer worldwide, and it accounts for 18% of all cancer-related deaths. Most cases of lung cancer involve non-small-cell lung cancer (NSCLC), in which therapy with immune checkpoint inhibitors (ICIs) can improve prognosis, yet up to 75% of patients fail to respond to it. Researchers at the Chinese Academy of Medical Sciences & Peking Union Medical College have identified potential metabolic markers that may help predict which patients are more likely to respond to ICI therapy.
Estrogen receptor-positive (ER+) breast cancer remains a major challenge even with well-defined treatment options. The identification of reliable markers for early detection of the disease is crucial for improving patient outcomes.
A publication based on longitudinal and cross sectional data and led by researchers at the U.S. NIH’s National Institute on Aging published on June 5, 2025, in Science has stated that the impact of taurine supplementation at delaying aging or treating aging-related conditions is context-dependent, and that the circulating levels of taurine are impacted by factors unique to each individual rather than declining with age. To qualify taurine as a true marker of aging, it should change with age across diverse populations over time and ideally supported by longitudinal data.
Head and neck cancer is the sixth most common cancer worldwide, and oral squamous cell carcinoma (OSCC) accounts for about 2% of all cancers and 1.9% of cancer-related deaths globally. OSCC is characterized by local invasiveness and lymph node metastatic ability, making it a very malignant cancer.
Researchers have discovered that reduced expression of the free fatty acid receptor 4 (FFAR4) is a biomarker of podocyte injury and aging, as well as a therapeutic target. Podocyte injury leads to progression of glomerular disease and aging, but the underlying mechanisms are poorly understood.
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