Publications by authors named "W van Hul"
The paraoxonase () gene family (including PON1, PON2, and PON3), is known for its anti-oxidative and anti-inflammatory properties, protecting against metabolic diseases such as obesity and metabolic dysfunction-associated steatotic liver disease (MASLD). In this study, the influence of common and rare variants on both conditions was investigated. A total of 507 healthy weight individuals and 744 patients with obesity including 433 with histological liver assessment, were sequenced with single-molecule molecular inversion probes (smMIPs), allowing the identification of genetic contributions to obesity and MASLD-related liver features.
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- MASLD, or Metabolic Dysfunction Associated Steatotic Liver Disease, affects 20%-30% of the population in Europe and is a leading cause of chronic liver disease globally.
- The disease progression is influenced by genetic, epigenetic, and metabolic factors, with altered DNA methylation patterns playing a significant role, especially the silencing of the PPARα gene, crucial for lipid metabolism.
- Research shows that loss of PPARα function, either through genetic modification or a high-fat diet, leads to epigenetic changes that trigger harmful liver pathways, emphasizing the need for PPARα in maintaining lipid balance and preventing severe liver damage in MASLD.
Article Synopsis
- Scientists found that modern humans have lighter bones than ancient relatives like Neanderthals and that this might be due to both how they lived and genetics.
- They studied a gene called LRP5, which affects bone strength, and discovered it behaves differently in ancient and modern people.
- Their research shows that there are unique genetic changes in modern humans compared to ancient ones, which might help explain why our bones are different today.
Context: Osteopathia striata with cranial sclerosis (OSCS) is a rare bone disorder with X-linked dominant inheritance, characterized by a generalized hyperostosis in the skull and long bones and typical metaphyseal striations in the long bones. So far, loss-of-function variants in AMER1 (also known as WTX or FAM123B), encoding the APC membrane recruitment protein 1 (AMER1), have been described as the only molecular cause for OSCS. AMER1 promotes the degradation of β-catenin via AXIN stabilization, acting as a negative regulator of the WNT/β-catenin signaling pathway, a central pathway in bone formation.
View Article and Find Full Text PDFPathogenic variants disrupting the binding between sclerostin (encoded by SOST) and its receptor LRP4 have previously been described to cause sclerosteosis, a rare high bone mass disorder. The sclerostin-LRP4 complex inhibits canonical WNT signaling, a key pathway regulating osteoblastic bone formation and a promising therapeutic target for common bone disorders, such as osteoporosis. In the current study, we crossed mice deficient for Sost (Sost) with our p.
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