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Hereditary haemorrhagic telangiectasia.
Nat Rev Dis Primers
January 2025
European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), HHT Rare Disease Working Group, Paris, France.
Hereditary haemorrhagic telangiectasia (HHT) is a vascular dysplasia inherited as an autosomal dominant trait and caused by loss-of-function pathogenic variants in genes encoding proteins of the BMP signalling pathway. Up to 90% of disease-causal variants are observed in ENG and ACVRL1, with SMAD4 and GDF2 less frequently responsible for HHT. In adults, the most frequent HHT manifestations relate to iron deficiency and anaemia owing to recurrent epistaxis (nosebleeds) or bleeding from gastrointestinal telangiectases.
View Article and Find Full Text PDFPathogenic mitochondrial DNA variants are associated with response to anti-VEGF therapy in ovarian cancer PDX models.
J Exp Clin Cancer Res
December 2024
Basic and Translational Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy.
Background: Mitochondrial DNA (mtDNA) pathogenic variants have been reported in several solid tumors including ovarian cancer (OC), the most lethal gynecologic malignancy, and raised interest as they potentially induce mitochondrial dysfunction and rewiring of cellular metabolism. Despite advances in recent years, functional characterization of mtDNA variants in cancer and their possible modulation of drug response remain largely uncharted.
Methods: Here, we characterized mtDNA variants in OC patient derived xenografts (PDX) and investigated their impact on cancer cells at multiple levels.
Targeted medical therapies for vascular anomalies.
Hematology Am Soc Hematol Educ Program
December 2024
Comprehensive Vascular Anomalies Program, The Children's Hospital of Philadelphia, Philadelphia, PA.
The last 2 decades of genetic discovery in the field of vascular anomalies have brought targeted medical therapies to the forefront of care patients with vascular anomalies and have broadened the role of hematologists/oncologists in this field. Many vascular anomalies have now been identified to be driven by somatic gain-of-function variants in the PI3K/AKT/ mTOR and Ras/MAPK intracellular signaling pathways. This has led to the introduction of various antiangiogenic agents that inhibit these pathways.
View Article and Find Full Text PDFArticle Synopsis
- Alternative splicing in the VEGF-A gene leads to two isoforms, VEGFa and VEGFb, which have different effects on blood vessel growth due to a 6-amino acid difference.
- VEGFb activates the VEGFR2 receptor but not the VEGFR1 receptor, while modifications to VEGFb can enhance its functionality, activating both pathways for better angiogenic response.
- The study reveals that changing specific amino acid residues in VEGFb can create a variant that activates both VEGFR1 and VEGFR2, promoting better recovery in a model of peripheral artery disease compared to VEGFa.
A yeast two-hybrid system to obtain triple-helical ligands from combinatorial random peptide libraries.
J Biol Chem
November 2024
Waseda Research Institute for Science and Engineering, Waseda University, Shinjuku, Tokyo, Japan; Department of Chemistry and Biochemistry, School of Advanced Science and Engineering, Waseda University, Shinjuku, Tokyo, Japan. Electronic address:
Article Synopsis
- Researchers developed a strategy to create and select triple-helical peptides that can interact with specific bioactive proteins, specifically using a yeast-based library.
- The selection process utilized a two-hybrid system to identify peptides that bind to the pigment epithelium-derived factor (PEDF), which is known for its anti-angiogenic and neurotrophic properties.
- The study revealed new binding sequences with strong affinities for PEDF, including a variant that differed from previously known collagen motifs, showcasing the potential of the library approach to discover more effective peptides.
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