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Meditation & Yoga Can Reverse Gene Expression Changes That Cause Stress, New Study Suggests

Mind-body interventions (MBIs) such as meditation, yoga, and Tai Chi don't simply relax us; they can 'reverse' the molecular reactions in our DNA which cause ill-health and depression, according to a study by the Universities of Coventry and Radboud. The research, published online on June 16, 2017 in Frontiers in Immunology, reviews over a decade of studies analyzing how the behavior of our genes is affected by different MBIs including mindfulness and yoga. The open-access review article is titled “What Is the Molecular Signature of Mind–Body Interventions? A Systematic Review of Gene Expression Changes Induced by Meditation and Related Practices.” Experts from the universities conclude that, when examined together, the 18 studies -- featuring 846 participants over 11 years -- reveal a pattern in the molecular changes that happen to the body as a result of MBIs, and how those changes benefit our mental and physical health. The researchers focus on how gene expression is affected; in other words, the way that genes activate to produce proteins which influence the biological make-up of the body, the brain, and the immune system. When a person is exposed to a stressful event, their sympathetic nervous system (SNS) -- the system responsible for the “fight-or-flight” response -- is triggered, in turn increasing production of a molecule called nuclear factor kappa B (NF-kB) which regulates how our genes are expressed. NF-kB translates stress by activating genes to produce proteins called cytokines that cause inflammation at cellular level -- a reaction that is useful as a short-lived fight-or-flight reaction, but if persistent leads to a higher risk of cancer, accelerated aging, and psychiatric disorders like depression.

Japan Research Collaboration Reveals Father-Daughter Inheritance of Mosaic Skin Disease As Sperm Cell Mutation Causing Whole-Body Skin Disorder; Relevance to Genetic Counseling

Birthmarks can be caused by an overgrowth of cells in the top layer of skin, as in the case of epidermolytic nevus (EN), which is visible as patches of thickened skin over small areas of the body. Mutations in genes encoding the skin proteins keratin 1 or keratin 10 are responsible for EN, but these mutations only occur in some cell populations of the body so they are known as mosaic. Birthmarks are not usually inherited because the genes of sperm and cells are rarely mutated. However, when inheritance does occur, the children develop skin symptoms identical to their affected parent but covering their entire body. Research at Nagoya University in collaboration with Juntendo University Urayasu Hospital, both in Japan, has led to the identification of one such case of EN in a father that was transmitted to his daughter as a sperm cell (germline) mutation, resulting in the more widespread skin disorder epidermolytic ichthyosis (EI), which affects the whole body. The study was reported online on May 19, 2017 in the Journal of Investigative Dermatology. The article is titled “A Child with Epidermolytic Ichthyosis from a Parent with Epidermolytic Nevus: Risk Evaluation of Transmission from Mosaic to Germline." EI symptoms are obvious from birth as skin redness and blistering that completely covers the body. This worsens over time, with the skin becoming scaly and thickened. Nagoya University researchers clinically diagnosed EI in a 2-year-old Japanese girl, and confirmed her diagnosis with the detection of a mutation in the gene encoding keratin 10. The girl's father had small patches of thickened skin on his hand, abdomen, and groin, affecting just 0.5% of his body surface. "We took a skin sample from one of these areas and identified the identical keratin 10 mutation that we detected in his daughter," co-author Dr. Yasushi Suga says.

Why Those with Autism Often Avoid Direct Eye Contact; MGH Findings Suggest Slow Habituation to Eye Contact May Help Overcome Excitatory Overreaction and Cascading Effects That This Eye-Avoidance May Have on Development of the Social Brain

Individuals with autism spectrum disorder (ASD) often find it difficult to look others in the eyes. This avoidance has typically been interpreted as a sign of social and personal indifference, but reports from people with autism suggest otherwise. Many say that looking others in the eye is uncomfortable or stressful for them - some will even say that "it burns" - all of which points to a neurological cause. Now, a team of investigators based at the Athinoula A. Martinos Center for Biomedical Imaging at Massachusetts General Hospital has shed light on the brain mechanisms involved in this behavior. They reported their findings in a Scientific Reports paper published online on June 9, 2017. The open-access article is titled “Look Me in the Eyes: Constraining Gaze in the Eye-Region Provokes Abnormally High Subcortical Activation in Autism.” "The findings demonstrate that, contrary to what has been thought, the apparent lack of interpersonal interest among people with autism is not due to a lack of concern," says Nouchine Hadjikhani, MD, PhD, Director of Neurolimbic Research in the Martinos Center and corresponding author of the new study. "Rather, our results show that this behavior is a way to decrease an unpleasant excessive arousal stemming from overactivation in a particular part of the brain." The key to this research lies in the brain's subcortical system, which is responsible for the natural orientation toward faces seen in newborns and is important later for emotion perception. The subcortical system can be specifically activated by eye contact, and previous work by Dr. Hadjikhani and colleagues revealed that, among those with autism, it was oversensitive to effects elicited by direct gaze and emotional expression.

Broccoli Extract Improves Glucose Control in Type 2 Diabetes

Researchers have identified an antioxidant – richly occurring in broccoli – as a new antidiabetic substance. A patient study shows significantly lower blood sugar levels in participants who ate broccoli extract with high levels of sulforaphane. “There are strong indications that this can become a valuable supplement to existing medication,” says Dr. Anders Rosengren, Docent in Metabolic Physiology at the University of Gothenburg in Sweden and affiliated with the Lund University Diabetes Centre. Publication of the finding in the June 14, 2017 issue of Science Translational Medicine builds on several years’ research at Sahlgrenska Academy, University of Gothenburg, and the Faculty of Medicine at Lund University. The open-access article is titled “Sulforaphane Reduces Hepatic Glucose Production and Improves Glucose Control in Patients with Type 2 Diabetes.” The objective of the study was to find new medications against type 2 diabetes by addressing an important disease mechanism: the liver’s elevated glucose production. The classic drug metformin works by doing just that, but often causes gastric side-effects and can also not be taken when kidney function is severely reduced, which affects many with diabetes. The researchers began by mapping the genetic changes in the liver in diabetes. 50 genes proved to play key roles. These were then matched against different substances in the search for compounds that could affect these particular key genes, and thereby attack the disease on a broad front. Of 2,800 substances investigated through computer-based mathematical analyses, sulforaphane proved to have the best characteristics for the task. An antioxidant that was previously studied for the treatment of cancer and inflammatory disease, but not for diabetes was thereby identified.

New Mutation Identified for Rare Genetic Kidney Disease (MCKD1); Mutant Protein Can Be Detected in Urinary Exosomes, Offering Possible Biomarker for Early Detection of Disease

Medullary cystic kidney disease type 1 (MCKD1) is an autosomal dominant tubulointerstitial kidney disease (ADTKD). Recently, mucin 1 (MUC1) was identified as a causal gene MCKD1. However, the identified MUC1 mutation was found to be a single cytosine insertion in a single copy of the GC-rich variable number of tandem repeats (VNTRs), which are very difficult to analyze by next-generation sequencing. Until now, other mutations had not been detected in ADTKD-MUC1, and the mutant MUC1 protein has not been analyzed because of the difficulty of genetically modifying the VNTR sequence. Now, a second mutation in the causal gene has been identified and this advance may enable earlier detection of the disease, perhaps via protein analysis of urinary exosomes. Despite the general rarity of MCKD1, because it is an autosomal dominant disease, once a causative mutation is in a family, many family members can be affected. Current diagnostic methods discover the disease only late in its development. Recently, Osaka University (Japan) researchers studied one family in which 9 of 26 members were positive for MCKD1 and identified the new mutation in the disease-associated mucin 1 (MUC1) gene that may act as an early marker of the disease. “Besides renal failure and genetic testing, there is little we have to identify the disease,” says Associate Professor Jun-Ya Kaimori, a nephrologist at Osaka University Hospital. “There are very few early signs that show illness.” At the point of renal failure, patients are usually left with only extreme and invasive treatment options, such as dialysis or transplantation. “MCKD1 is caused by a single mutation in MUC1 gene discovered in 2013,” he continued. This mutation is located in a region of the gene that includes GC-rich variable number of tandem repeats (VNTRs). This, explains Dr.

DNA Methylation (Epigenetic) Changes Present at Birth Could Explain Later Behavior Problems

Epigenetic changes present at birth - in genes related to addiction and aggression - could be linked to conduct problems in children, according to a new study by researchers at King's College London and the University of Bristol. Conduct problems (CP) such as fighting, lying, and stealing are the most common reason for child treatment referral in the UK, costing an enormous amount of money each year. Children who develop conduct problems before the age of 10 (known as early-onset CP) are at a much higher risk for severe and chronic antisocial behavior across the lifespan, resulting in further social costs related to crime, welfare dependence, and health-care needs. Genetic factors are known to strongly influence conduct problems, explaining between 50-80 per cent of the differences between children who develop problems and those who do not. However, little is known about how genetic factors interact with environmental influences - especially during fetal development - to increase the risk for later conduct problems. Understanding changes in DNA methylation, an epigenetic process that regulates how genes are “switched on and off,” could aid the development of more effective approaches to preventing later conduct problems. The study, published online on June 12, 2017, in Development & Psychopathology, used data from Bristol's Avon Longitudinal Study of Parents and Children (ALSPAC) to examine associations between DNA methylation at birth and conduct problems from the ages of 4 to 13. The researchers also measured the influence of environmental factors previously linked to early onset of conduct problems, including maternal diet, smoking, alcohol use, and exposure to stressful life events.

Scientists Make First Crystal Model of Molecular Interactions in Under-Diagnosed Autoimmune Disease (Myasthenia Gravis); 3D Model Shows Interactions Between Auto-Antibodies and Auto-Antigen

As a molecular biologist, Kaori Noridomi gets an up-close view of the targets of her investigations. But when she began studying the molecular structures of a rarely diagnosed autoimmune disorder, myasthenia gravis, she decided to step out of the lab for a better view. Dr. Noridomi said she thought she needed to know more than what she saw under a microscope and decided she should meet patients who have myasthenia gravis. She went so far as to attend a fundraising walk that supported research of the disease. "Patients are just waiting for breakthroughs in research and better treatment," said Noridomi, a researcher in Professor Lin Chen's Molecular and Computational Biology lab at the University of Southern California (USC) Dornsife College of Letters, Arts and Sciences. "They may also, because the disease attacks their immune system, end up with other diseases. I met one patient who had myasthenia gravis and had also dealt with four different types of cancer." Motivated by the patients' stories, Noridomi and a team of scientists, including Professor Chen (photo), developed a 3-D, crystal structure of the disease's molecular interactions to fully view its molecular interactions with a neural receptor that is the regular target of the disease. It is the first, high-resolution visual display of the molecular interactions. The development of the crystal structure gives scientists a clear view of how exactly the disease behaves and interferes with brain-to-muscle signals. The ability to see these interactions will likely accelerate research of the disease and could possibly lead to new disease-targeting therapies, said Dr. Chen, the study's corresponding author and a USC Dornsife College Professor of Biological Sciences and Chemistry. "Because of this finding, we may also find a better quantitative way to identify patients," Dr. Chen said.

Possible “Game-Changer in Treatment of Type 2 Diabetes” Canagliflozin (Invokana) Drug Reduces Risks of Cardiovascular Disease, Heart Failure Hospitalization, and Kidney Disease Progression, According to Study Published in NEJM

A drug that lowers blood sugar levels for people with type 2 diabetes has also been revealed to significantly reduce the risk of both cardiovascular and kidney disease. The study by The George Institute for Global Health has major implications for the treatment of type 2 diabetes, which affects approximately 450 million people worldwide. The findings published online on June 12, 2017 in the New England Journal of Medicine found that the drug canagliflozin (Invokana) reduced the overall risk of cardiovascular disease by 14 per cent and reduced the risk of heart failure hospitalization by 33 per cent. It was also shown to have a significant impact on the progression of renal disease. Professor Bruce Neal, of The George Institute for Global Health, said the findings, which were presented at the American Diabetes Association Conference in San Diego (June 9-13) were exciting and offered real hope to people suffering from type 2 diabetes. "Coronary heart disease is the biggest killer by far for people with type 2 diabetes. Our findings suggest that not only does canagliflozin significantly reduce the risk of heart disease, it also has many other benefits too. We found it also reduced blood pressure and led to weight loss. Type 2 diabetes is growing rapidly all over the world and we need drugs that not only deal with glucose levels, but that also protect the many millions of people from the very real risks of stroke and heart attack." The study is particularly important to Australiaa because approximately 65% of all cardiovascular deaths occur in people with diabetes or pre-diabetes, and diabetes is also the leading cause of end-stage kidney disease. It also reinforces the findings from a previous study which also showed a reduced risk of cardiovascular disease associated with blood-sugar-level-lowering drugs.

Small Group of Hypothalamus Neurons (POMC) Modulates Amount of Insulin Pancreas Produces

The brain is key in the regulation of appetite, body weight, and metabolism. Specifically, there is a small group of hypothalamus neurons, called POMC (pro-opiomelanocortin) neurons, that detect and integrate signals that inform on the energy state of the organism and activate the appropriate physiological responses. These neurons are sensitive to fluctuations in nutrients such as glucose, fatty acids, and amino acids. Now, a research project co-chaired by Marc Claret, at the August Pi i Sunyer Biomedical Research Institute (IDIBAPS), and Antonio Zorzano, at the Institute for Research in Biomedicine (IRB Barcelona), both members of the CIBERDEM network, reveals the connection between POMC neurons at the hypothalamus and the release of insulin by the pancreas and describes new molecular mechanisms involved in this connection. The study was published in the June 6, 2017 issue of Cell Metabolism and the first authors are Sara Ramírez and Alicia G. Gómez-Valadés, both at IDIBAPS. The article is titled “Mitochondrial Dynamics Mediated by Mitofusin 1 Is Required for POMC Neuron Glucose-Sensing and Insulin Release Control.” POMC neurons detect changes in nutrient availability, but the molecular mechanisms involved are not known in detail. Also changes in the shape of mitochondria, a phenomenon known as mitochondrial dynamics, is a mechanism of energy adaptation in changing metabolic conditions, to adjust the needs of cells. To determine whether defects in the mitochondrial dynamics of this small nucleus of POMC neurons could cause alterations in metabolism, researchers removed a mitochondrial dynamics protein, mitofusin 1, in these cells in mice. First, the scientists observed that these mice have altered detection of glucose levels and adaptation between the fasting state and after being fed.

Liquid Biopsy Propelling Cancer Diagnostics Research Is Focus of Mid-Morning Session on Day 2 of Personalized Medicine World Conference (PMWC) 2017 at Duke; GRAIL Founder Richard Klausner Speaks

Speakers in the mid-morning session of Day 2 of the PMWC 2017 at Duke focused on how “Liquid Biopsy Is Propelling Cancer Diagnostics Research.” The speakers included Richard Klausner, MD, former Director of the National Cancer Institute, past Chief Medical Officer at Illumina, and a founder of GRAIL, Inc. (, a life sciences company whose mission is to detect cancer early, when it can be cured, using wide and deep DNA sequencing analysis of circulating cell-free DNA (cfDNA); John Beeler, PhD, VP of Corporate & Business Development, Inivata (, a company dedicated to transforming clinical cancer care with liquid biopsy; and Edward Kim, MD, Chair of Solid Tumor Oncology and Investigational Therapeutics and the Donald S. Kim Distinguished Chair for Cancer Research at the Levine Cancer Institute, Carolinas HealthCare System in Charlotte, North Carolina. Dr. Kim was previously at UT MD Anderson Cancer Center in Houston, Texas where he was a tenured Associate Professor of Medicine, Chief of the Section of Head and Neck Medical Oncology, and Director of Clinical Research Operations in the Department of Thoracic/Head and Neck Medical Oncology. Dr. Klausner began the session by briefly telling the story of how GRAIL, a company that recently raised $900 million in funding, came to be. The story began not too long ago at Illumina, the biotech company where Dr. Klausner was CMO. Illumina had developed a highly specific and precise liquid biopsy test (Noninvasive Prenatal Testing) that could detect aberrant chromosome numbers (monosomies and trisomies) in fetal DNA in blood taken from expectant mothers as early as 10 weeks into the pregnancy. Dr. Klausner said that this test became the most rapidly adopted test in history.

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