Thursday, July 6, 2017
Rare disease research uncovers new mechanism underlying muscle development.
An international team of researchers has identified genomic mutations for Carey-Fineman-Ziter (CFZS) syndrome, a very rare congenital myopathy (inherited muscle disorder) characterized by facial weakness, a small or retracted chin, a cleft palate and curvature of the spine (scoliosis), among other symptoms. The researchers determined that CFZS is caused by mutations in the gene MYMK that encodes for the protein myomaker. This protein is necessary for the fusion of muscle cells (myoblasts) into muscle fibers (myotubes) during the development of an embryo and the regeneration of muscle cells after injury. The study was published July 6, 2017, in Nature Communications.
Thursday, June 29, 2017
Investigators at the National Institutes of Health and international colleagues have discovered a genetic cause and potential treatment strategy for a rare immune disorder called CHAPLE disease. Children with the condition can experience severe gastrointestinal distress and deep vein blood clots. No effective treatments are available to ameliorate or prevent these life-threatening symptoms.
Wednesday, June 28, 2017
Findings in mouse models reveal inflammatory factors that promote liver scarring
New findings from mouse models reveal that the type of immune response that helps maintain healthy metabolism in fatty tissues, called type 2 immunity, also drives obesity-induced nonalcoholic fatty liver disease (NAFLD). The work, led by scientists at the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health, shows that the inflammatory environment in the fatty liver is more complex than previously thought. These insights may inform the development of new NAFLD treatments as well as immune-altering therapies for obesity and related health issues in people with NAFLD.
Monday, June 19, 2017
Research led by IRP investigators suggests potential treatment strategy.
Researchers have identified mutations in a gene called CARD11 that lead to atopic dermatitis, or eczema, an allergic skin disease. Scientists from the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health, and other institutions discovered the mutations in four unrelated families with severe atopic dermatitis and studied the resulting cell-signaling defects that contribute to allergic disease. Their findings, reported in Nature Genetics, also suggest that some of these defects potentially could be corrected by supplementation with the amino acid glutamine.
Friday, June 16, 2017
Results suggest possible new treatment approach.
Glutamine supplements can suppress reactivation of herpes simplex virus (HSV) in mice and guinea pigs, according to findings recently published in the Journal of Clinical Investigation. The research was conducted by scientists at the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health, and at the U.S. Food and Drug Administration.
There is no cure for infection with HSV-1 and HSV2, viruses that can cause recurrent outbreaks of cold sores and genital sores in humans. Although antiviral medications can help shorten outbreaks, the virus persists in the body and can reactivate, which underscores the need for new treatment approaches. Prior research demonstrated the importance of HSV-specific T cells for controlling recurrent HSV outbreaks, and that activated T cells require increased metabolism of glutamine (an amino acid produced by the body and found in food). Therefore, the authors speculated that glutamine supplementation might increase T-cell function and improve infection control.
Tuesday, June 13, 2017
Duchenne muscular dystrophy is caused by a faulty gene that leads to progressive muscle weakness.
Researchers at the National Institutes of Health’s National Center for Advancing Translational Sciences (NCATS) and the University of Nevada, Reno School of Medicine (UNR Med) have demonstrated that a drug originally targeted unsuccessfully to treat cancer may have new life as a potential treatment for Duchenne muscular dystrophy (DMD).
The candidate drug, SU9516, represents a different kind of approach for treating DMD, a degenerative muscle disease that usually begins in childhood and has no known cure. It is caused by a faulty gene that leads to progressive muscle weakness, with death often occurring around age 25. Rather than trying to fix or replace the broken gene, SU9516 ramps up the muscle repair process, helping reinforce muscle structure.
Monday, June 12, 2017
Unusual case provides insight into leading cause of acute illness worldwide.
Scientists have identified a rare genetic mutation that results in a markedly increased susceptibility to infection by human rhinoviruses (HRVs) — the main causes of the common cold. Colds contribute to more than 18 billion upper respiratory infections worldwide each year, according to the Global Burden of Disease Study.
Researchers at the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health, identified the mutation in a young child with a history of severe HRV infections. The case, published online today in the Journal of Experimental Medicine, reveals an important mechanism by which the immune system responds to these viruses, say the study authors.
Wednesday, June 7, 2017
Children born to women with gestational diabetes whose diet included high proportions of refined grains may have a higher risk of obesity by age 7, compared to children born to women with gestational diabetes who ate low proportions of refined grains, according to results from a National Institutes of Health study. These findings, which appear online in the American Journal of Clinical Nutrition, were part of the Diabetes & Women’s Health Study, a research project led by NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).
Gestational diabetes, or high blood sugar during pregnancy, affects about 5 percent of all pregnancies in the United States and may lead to health problems for mothers and newborns. The authors noted that previous studies have linked diets high in refined grains — such as white rice — to obesity, type 2 diabetes and heart disease.
Tuesday, June 6, 2017
Children born to women who had gestational diabetes and drank at least one artificially sweetened beverage per day during pregnancy were more likely to be overweight or obese at age 7, compared to children born to women who had gestational diabetes and drank water instead of artificially sweetened beverages, according to a study led by researchers at the National Institutes of Health. Childhood obesity is known to increase the risk for certain health problems later in life, such as diabetes, heart disease, stroke and some cancers. The study appears online in the International Journal of Epidemiology.
Friday, June 2, 2017
Studies of epilepsy patients uncover clues to how the brain remembers.
In a pair of studies, scientists at the National Institutes of Health explored how the human brain stores and retrieves memories. One study suggests that the brain etches each memory into unique firing patterns of individual neurons. Meanwhile, the second study suggests that the brain replays memories faster than they are stored. The studies were led by Kareem Zaghloul, M.D., Ph.D., a neurosurgeon-researcher at the NIH’s National Institute of Neurological Disorders and Stroke (NINDS).