Here, Nicole J. Moreland & team report widespread antibody heterogeneity between cases, yet identify a protein expressed in cardiac muscle as an immunodominant autoantigen with potential as a diagnostic biomarker.
1Department of Molecular Medicine, and.
2Maurice Wilkins Centre for Biodiscovery, The University of Auckland, Auckland, New Zealand.
3Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
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Organs often have fluid-filled spaces called lumens, which are crucial for organ function and serve as transport and delivery networks. Lumens in the pancreas form a complex ductal system, and its channels transport digestive enzymes to the small intestine. Understanding how this system forms in embryonic development is essential, both for normal organ formation and for diagnosing and treating pancreatic disorders.
Despite their importance, how lumens take certain shapes is not fully understood, as studies in other models have largely been limited to the formation of single, spherical lumens. Organoid models, which more closely mimic the physiological characteristics of real organs, can exhibit a range of lumen morphologies, such as complex networks of thin tubes.
Researchers in the group of Anne Grapin-Botton, director at the Max Planck Institute of Molecular Cell Biology and Genetics (MPI-CBG) in Dresden, Germany, and also Honorary Professor at TU Dresden, teamed up with colleagues from the group of Masaki Sano at the University of Tokyo (Japan), Tetsuya Hiraiwa at the Institute of Physics of Academia Sinica (Taiwan), and with Daniel Rivéline at the Institut de Génétique et de Biologie Moléculaire et Cellulaire (France) to explore the processes involved in complex lumen formation.
An analysis of genetic data from over 900,000 people shows that certain stretches of DNA, made up of short sequences repeated over and over, become longer and more unstable as we age. The study found that common genetic variants can speed up or slow down this process by up to four-fold, and that certain expanded sequences are linked to serious diseases including kidney failure and liver disease.
More than 60 inherited disorders are caused by expanded DNA repeats: repetitive genetic sequences that grow longer over time. These include devastating conditions like Huntington’s disease, myotonic dystrophy, and certain forms of ALS.
Most people carry DNA repeats that gradually expand throughout their lives, but this instability and what genetic factors control it hadn’t been fully analyzed within large biobanks.
Sofia Ferreira & Laura D. Attardi comment on Yi Xu et al.: https://doi.org/10.1172/JCI194395
1Division of Radiation and Cancer Biology, Department of Radiation Oncology, Stanford University School of Medicine, Stanford, California, USA.
2Department of Genetics, Stanford University School of Medicine, Stanford, California, USA.
Address correspondence to: Laura D. Attardi, Stanford University School of Medicine, 269 Campus Drive, CCSR-South, Room 1,255, Stanford, California, 94,305, USA. Phone: 650.725.8424; Email: [email protected].
IDH-mutant glioma, caused by abnormalities in a specific gene (IDH), is the most common malignant brain tumor among young adults under the age of 50. It is a refractory brain cancer that is difficult to treat due to its high recurrence rate.
Until now, treatment has focused primarily on removing the visible tumor mass. However, a Korean research team has discovered for the first time that normal brain cells acquire the initial IDH mutation and spread out through the cortex long before a visible tumor mass harboring additional cancer mutations forms, opening a new path for early diagnosis and treatment to suppress recurrence.
As species evolve, random genetic mutations arise. Some of these mutations become fixed, meaning they spread until every individual in a population carries the change. The Neutral Theory of Molecular Evolution argues that most mutations that reach this stage are neutral. Harmful mutations are quickly eliminated, while helpful ones are assumed to be extremely rare, explains evolutionary biologist Jianzhi Zhang.
Zhang and his colleagues set out to test whether this idea holds up when examined more closely. Their results pointed to a major problem. The researchers found that beneficial mutations occur far more often than the Neutral Theory allows. At the same time, they observed that the overall rate at which mutations become fixed in populations is much lower than would be expected if so many helpful mutations were taking hold.
Statins in genetic myopathies: a retrospective analysis of safety and tolerability.
ObjectivesStatins are widely prescribed lipid-lowering agents, but their safety and tolerability in patients with underlying genetic myopathies remain uncertain. We aimed to study statin safety and tolerability in genetic myopathies using a large retrospective cohort.
Novel research led by Brazilian scientists describes the immune system’s reactions in detail in the first living patient to receive a genetically modified pig kidney transplant. This paves the way for the search for therapies that can prevent organ rejection.
The study demonstrates the feasibility of this type of graft but indicates that controlling initial rejection alone is insufficient. This is because even with immunosuppressants, continuous activation of innate immunity—the body’s first line of defense, especially macrophages, which react to any threat—can compromise long-term survival.
Through transcriptomic, proteomic, metabolomic, and spatial analyses, the scientists have determined that new strategies are necessary to achieve long-term survival and favorable clinical outcomes. They recommend combining therapies that target innate immunity with advanced genetic engineering in donor pigs. They also suggest preventing early T lymphocyte-mediated rejection and implementing more sensitive monitoring approaches.