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Archive - May 30, 2019

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International Team ID’s Potential Target for Treatment of Sepsis

An international collaboration led by scientists at the University of Texas (UT) Southwestern Medical Center has identified a potential new therapeutic target for sepsis, a life-threatening disease that can quickly spread through the body damaging organs. UT Southwestern researchers and collaborators in China, France, and Sweden, as well as in New York and Pennsylvania in the US, made a key discovery regarding cellular processes that block pathways in immune cells that lead to sepsis. At a fundamental level, sepsis is an out-of-control inflammatory response that damages organs and critical cellular functions leading to tissue damage. "If not recognized early and managed promptly, sepsis can lead to septic shock, multiple organ failure, and even death," said study author Rui Kang, MD, PhD, Associate Professor of Surgery at UT Southwestern who studies sepsis. "Our study provides novel insight into immune regulation related to sepsis and represents a proof of concept that immunometabolism constitutes a potential therapeutic target in sepsis." Immunometabolism is the interaction of the body's natural or innate immune response (how cells detect and react to threats) and metabolism (how cells convert food to energy and building blocks the body needs to function. Immunometabolism is an emerging field of study combining the two traditionally independent disciplines. Sepsis occurs when an initial infection spreads through the bloodstream to other parts of the body. Early detection and treatment of sepsis is critical, but it can be difficult to detect and to stop before damage to organs and tissue occurs. Treatments can involve antibiotics, fluids, oxygen, dialysis to ensure blood flow to affected organs, and surgery to remove damaged tissue.

Two Mild Cardiac Disease Genes from Father and One Modifier Gene from Mother Combine to Cause Severe Congenital Heart Disease in Offspring

Congenital heart disease occurs in up to 1% of live births, and the infants who are affected may require multiple surgeries, life-long medication, or heart transplants. In many patients, the exact cause of congenital heart disease is unknown. While it is becoming increasingly clear that these heart defects can be caused by genetic mutations, it is not well understood which genes are involved and how they interact. Genetic mutations, also called genetic variants, can also cause poor heart function, but the type and severity of dysfunction varies widely even among those with the same mutation. The Human Genome project allowed scientists to identify some rare cases of disease caused by severe mutations of a single gene, but scientists believe that more common forms of disease may be the result of a combination of subtler genetic mutations that act together. Yet, experimental proof for this concept of human disease has remained elusive - until now. In a paper published online in Science on May 30, 2019 and scheduled for publication in the May 31 issue of that journal, scientists from the Gladstone Institutes in San Francisco and the University of California, San Francisco (UCSF) used technological advances to prove that three subtle genetic variants inherited within a family worked together to cause heart disease in multiple siblings at a very young age. The article is titled “Oligogenic Inheritance of a Human Heart Disease Involving a Genetic Modifier.” "The idea that several genetic variants are necessary to cause most complex diseases has been around for a long time, but proving it has been difficult," said Casey Gifford, PhD, a staff scientist at Gladstone who is the first author on the paper.

Newly Discovered Immune Cell Linked to Type 1 Diabetes—"Rogue Hybrid” of B-Cell & T-Cell Appears to Spur Potent Autoimmune Attack on Insulin-Producing Cells in Pancreas; Study Led by Hopkins and IBM Scientists Published in Cell

In a discovery that might be likened to finding medicine's version of the Loch Ness monster, a research team from Johns Hopkins Medicine, IBM Research, and four additional collaborating institutions is the first to document the existence of a long-doubted "X cell," a "rogue hybrid" immune system cell that may play a key role in the development of type 1 diabetes. The researchers report the unusual lymphocyte (a type of white blood cell) -- formally known as a dual expressor (DE) cell -- in a new paper published as a featured article in the May 30, 2019 issue of Cell (https://www.cell.com/cell/fulltext/S0092-8674(19)30505-7). The open-access article is titled “A Public BCR Present in a Unique Dual-Receptor-Expression Lymphocyte from Type 1 Diabetes Patients Encodes a Potent T Cell Autoantigen.” “The cell we have identified is a hybrid between the two primary workhorses of the adaptive immune system, B lymphocytes and T lymphocytes," says Abdel-Rahim A. Hamad, MVSc, PhD., Associate Professor of Pathology at the Johns Hopkins University School of Medicine and one of the authors of the paper. "Our findings not only show that the X cell exists, but that there is strong evidence for it being a major driver of the autoimmune response believed to cause type 1 diabetes." Type 1 diabetes, formerly known as juvenile diabetes or insulin-dependent diabetes, is a chronic condition in which there is destruction of the beta cells in the pancreas that produce insulin (image), the hormone that regulates a person's blood sugar level. Diagnosed mostly in childhood, but presenting at all ages, the disease accounts for between 5% and 10 % of all diabetes cases in the United States or about 1.3 million people.

Research Confirms Gut-Brain Connection in Autism; Scientists Show, for First Time, That Brain & Gut Share Autism-Related Mutation in Gene for Neuroligin-3

People with autism often suffer from gut problems, but nobody has known why. Researchers have now discovered the same gene mutations - found both in the brain and the gut - could be the cause. The discovery confirms a gut-brain nervous system link in autism, opening a new direction in the search for potential treatments that could ease behavioral issues associated with autism by targeting the gut. Chief Investigator Associate Professor Elisa Hill-Yardin (photo), PhD, RMIT University in Melbourne, Australia, said scientists trying to understand autism have long been looking in the brain, but the links with the gut nervous system have only been recently explored. "We know the brain and gut share many of the same neurons and now, for the first time, we've confirmed that they also share autism-related gene mutations," Dr. Hill-Yardin said. "Up to 90% of people with autism suffer from gut issues, which can have a significant impact on daily life for them and their families. "Our findings suggest these gastrointestinal problems may stem from the same mutations in genes that are responsible for brain and behavioral issues in autism. It's a whole new way of thinking about it - for clinicians, families, and researchers - and it broadens our horizons in the search for treatments to improve the quality of life for people with autism." The study reveals a gene mutation that affects neuron communication in the brain, and was the first identified as a cause of autism, also causes dysfunction in the gut. The research brings together new results from pre-clinical animal studies with previously unpublished clinical work from a landmark 2003 study led by Swedish researchers and a French geneticist.