UCLA researchers have unraveled a mysterious condition that causes congenital diarrhea and intestinal failure in children. The new disorder, named enteric anendocrinosis, is caused by a mutation in the gene Neurogenin-3 (NEUROG3).
The findings represent the first description of a disease-causing mutation of NEUROG3 in humans and the first new discovery within the past 15 years of a disorder that causes intestinal failure.
Patients with this condition have an abnormally low number of endocrine cells in their intestine and also eventually develop type I diabetes.
"Rare diseases help us understand how the body works," said principal investigator, Dr. Martín G. Martín, professor of pediatrics in the division of gastroenterology and nutrition at Mattel Children's Hospital at UCLA. "We now know that the hormone-producing endocrine cells of the intestine have an essential role in facilitating nutrient absorption. These findings have already led to the detection of subset forms of enteric anendocrinosis."
Martín and his colleagues describe their research in the July 20 issue of the peer-reviewed New England Journal of Medicine.
The study focuses on three children who each showed symptoms of vomiting, diarrhea and dehydration during the first few weeks of life, following consumption of formula.
Researchers used genomic DNA from the patients to screen for mutations of NEUROG3. They then tested the ability of the mutations to alter NEUROG3's function.
Martín anticipates that this discovery will provide the framework to further understand type I diabetes, as well as other diarrheal disorders, including inflammatory bowel disease and diarrhea-predominant irritable bowel syndrome.
"Since patients with enteric anendocrinosis develop type I diabetes, we hope stem cell researchers can apply the knowledge from this discovery to the role of NEUROG3 in the development of insulin-producing islet cells in the pancreas," Martín said.
"In mice, Neurogenin-3 initiates the development of the endocrine cells in the pancreas, including the insulin-producing cells," said Dr. Michael German, professor of medicine at the University of California, San Francisco, Hormone Research Institute. "In the absence of Neurogenin-3, no insulin-producing cells are generated in the pancreas, and the animals develop diabetes at birth. Therefore, Neurogenin-3 has been termed a 'pro-endocrine' gene, since it drives progenitor cells to mature into endocrine cells."
"The cure for enteric anendocrinosis and diabetes--two diseases that involve failure of a specific type of cell--may eventually be derived from stem cells that are able to replace the dysfunctional cells and produce the right kind of hormones," said Dr. Doron Kahana, a pediatric gastroenterology research fellow in Martín's lab.
There are about 30 known causes of chronic diarrhea. It affects approximately 5 percent of the population and only rarely occurs during the first several weeks of life.
Unlike acute diarrhea--which is normally caused by a virus, bacteria or parasite and generally improves within a few days or weeks--chronic diarrhea persists and can lead to severe malnutrition and growth failure in children.
For newborns with enteric anendocrinosis, their condition is worsened by eating. Treatment usually involves specialized formulas and intravenous nutrition to minimize the diarrheal symptoms and promote growth. Currently, there is no cure for the illness.
Amy Waddell Albin | EurekAlert!
20.11.2017 | Washington University in St. Louis
Carefully crafted light pulses control neuron activity
20.11.2017 | University of Illinois at Urbana-Champaign
The formation of stars in distant galaxies is still largely unexplored. For the first time, astron-omers at the University of Geneva have now been able to closely observe a star system six billion light-years away. In doing so, they are confirming earlier simulations made by the University of Zurich. One special effect is made possible by the multiple reflections of images that run through the cosmos like a snake.
Today, astronomers have a pretty accurate idea of how stars were formed in the recent cosmic past. But do these laws also apply to older galaxies? For around a...
Just because someone is smart and well-motivated doesn't mean he or she can learn the visual skills needed to excel at tasks like matching fingerprints, interpreting medical X-rays, keeping track of aircraft on radar displays or forensic face matching.
That is the implication of a new study which shows for the first time that there is a broad range of differences in people's visual ability and that these...
Computer Tomography (CT) is a standard procedure in hospitals, but so far, the technology has not been suitable for imaging extremely small objects. In PNAS, a team from the Technical University of Munich (TUM) describes a Nano-CT device that creates three-dimensional x-ray images at resolutions up to 100 nanometers. The first test application: Together with colleagues from the University of Kassel and Helmholtz-Zentrum Geesthacht the researchers analyzed the locomotory system of a velvet worm.
During a CT analysis, the object under investigation is x-rayed and a detector measures the respective amount of radiation absorbed from various angles....
The quantum world is fragile; error correction codes are needed to protect the information stored in a quantum object from the deteriorating effects of noise. Quantum physicists in Innsbruck have developed a protocol to pass quantum information between differently encoded building blocks of a future quantum computer, such as processors and memories. Scientists may use this protocol in the future to build a data bus for quantum computers. The researchers have published their work in the journal Nature Communications.
Future quantum computers will be able to solve problems where conventional computers fail today. We are still far away from any large-scale implementation,...
Pillared graphene would transfer heat better if the theoretical material had a few asymmetric junctions that caused wrinkles, according to Rice University...
15.11.2017 | Event News
15.11.2017 | Event News
30.10.2017 | Event News
20.11.2017 | Life Sciences
20.11.2017 | Materials Sciences
20.11.2017 | Life Sciences