Researchers at the University of Minnesota have identified, for the first time, a gene variation associated with systemic lupus erythematosus (SLE), a complex, inflammatory autoimmune disease that affects multiple organs. The gene variation, known as PTPN22, is found in approximately 16 percent (or one in six) of healthy Caucasians in the United States. However, nearly one in four (or 23 percent) lupus patients carry this variant, which has also now been associated with risk for type 1 diabetes and rheumatoid arthritis. The study is published in the September edition of the American Journal of Human Genetics.
"This appears to be a very important gene for lupus," said Timothy W. Behrens, M.D., professor of medicine, Medical School, and principal investigator, "and this is the first time we have identified a variant that predisposes to many different autoimmune diseases. We hope that this discovery will lead to the identification of other genes associated with lupus and other immune disorders." Behrens believes that dozens of genes may be responsible for lupus and that discovering the combination of these genes will be important to developing better diagnosis and treatment of the disease.
In SLE, a persons immune system begins attacking its own tissues. Organs commonly targeted in SLE include the skin, kidneys, joints, lungs, and the central nervous system. The severity of disease and the response to therapy vary widely between patients, said Behrens, and this leads to significant challenges in the diagnosis and management of lupus. "If we know which genes predispose a person to lupus, we may be able to diagnose and treat the disease earlier," he said. "In addition to discovering which combination of genes lead to lupus and other immune diseases, we also hope this information will help us identify new drugs and therapies."
Brenda Hudson | EurekAlert!
Rainbow colors reveal cell history: Uncovering β-cell heterogeneity
22.09.2017 | DFG-Forschungszentrum für Regenerative Therapien TU Dresden
The pyrenoid is a carbon-fixing liquid droplet
22.09.2017 | Max-Planck-Institut für Biochemie
Plants and algae use the enzyme Rubisco to fix carbon dioxide, removing it from the atmosphere and converting it into biomass. Algae have figured out a way to increase the efficiency of carbon fixation. They gather most of their Rubisco into a ball-shaped microcompartment called the pyrenoid, which they flood with a high local concentration of carbon dioxide. A team of scientists at Princeton University, the Carnegie Institution for Science, Stanford University and the Max Plank Institute of Biochemistry have unravelled the mysteries of how the pyrenoid is assembled. These insights can help to engineer crops that remove more carbon dioxide from the atmosphere while producing more food.
A warming planet
Our brains house extremely complex neuronal circuits, whose detailed structures are still largely unknown. This is especially true for the so-called cerebral cortex of mammals, where among other things vision, thoughts or spatial orientation are being computed. Here the rules by which nerve cells are connected to each other are only partly understood. A team of scientists around Moritz Helmstaedter at the Frankfiurt Max Planck Institute for Brain Research and Helene Schmidt (Humboldt University in Berlin) have now discovered a surprisingly precise nerve cell connectivity pattern in the part of the cerebral cortex that is responsible for orienting the individual animal or human in space.
The researchers report online in Nature (Schmidt et al., 2017. Axonal synapse sorting in medial entorhinal cortex, DOI: 10.1038/nature24005) that synapses in...
Whispering gallery mode (WGM) resonators are used to make tiny micro-lasers, sensors, switches, routers and other devices. These tiny structures rely on a...
Using ultrafast flashes of laser and x-ray radiation, scientists at the Max Planck Institute of Quantum Optics (Garching, Germany) took snapshots of the briefest electron motion inside a solid material to date. The electron motion lasted only 750 billionths of the billionth of a second before it fainted, setting a new record of human capability to capture ultrafast processes inside solids!
When x-rays shine onto solid materials or large molecules, an electron is pushed away from its original place near the nucleus of the atom, leaving a hole...
For the first time, physicists have successfully imaged spiral magnetic ordering in a multiferroic material. These materials are considered highly promising candidates for future data storage media. The researchers were able to prove their findings using unique quantum sensors that were developed at Basel University and that can analyze electromagnetic fields on the nanometer scale. The results – obtained by scientists from the University of Basel’s Department of Physics, the Swiss Nanoscience Institute, the University of Montpellier and several laboratories from University Paris-Saclay – were recently published in the journal Nature.
Multiferroics are materials that simultaneously react to electric and magnetic fields. These two properties are rarely found together, and their combined...
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