Extreme obesity: researchers discover new disease
Scientists in Ulm have discovered a new illness in a small child. The boy suffered from extreme excess weight as a three-year-old and weighed over 40 kilograms. The discovery is described by experts as "groundbreaking".
Three-year-old weighed 40 kilos In Ulm, doctors and scientists discovered a new illness in a three-year-old child. The little boy suffered from severe obesity and already weighed more than 40 kilos. A biologically inactive hormone called leptin has been reported to lead to extreme obesity. The researchers not only discovered the physiological relationships for this pathological disorder, but also developed a successful therapy. Professor Klaus-Michael Debatin, Medical Director of the University Clinic for Pediatrics and Adolescent Medicine, said: "The discovery is groundbreaking." So far, the possible presence of biologically inactive signaling molecules in medicine has been largely ignored.
Hormone inhibits food intake in the brain The scientists published their results in the journal “New England Journal of Medicine”. “The finding here wakes us up and searches for comparable clinical pictures in other areas,” says Debatin. The hormone leptin (Greek leptos = slim), which was already discovered in genetically obese mice in 1994, is produced in the adipose tissue depending on the size and size of the fat cells and inhibits food intake in the brain. When the energy stores are well filled, a lot of leptin is produced and the appetite is curbed, which makes the fat stores empty again. However, if the hormone cannot be produced due to a change in the genetic material, the brain does not receive a saturation signal, which means that food is taken in unchecked and this leads to extreme overweight.
Disease identified so far by blood test Patients with this inherited disorder have previously been identified by a blood test. If leptin was detectable in the bloodstream, the diagnosis "leptin deficiency" was made. However, normal, even very high levels of the hormone were measured in the child in Ulm. Contrary to common guidelines, the leptin gene was then examined and - surprisingly - a mutation was found. “This constellation of findings reminded me of other clinical pictures from children's endocrinology, in which protein hormones are produced by the body and can also be measured in the blood, but have no effect. We then speak of so-called bio-inactive hormones, ”explained Professor Martin Wabitsch, head of the Pediatric Endocrinology section of the university clinic. He went on to say: “The information from the messenger does not reach the destination. This simulates a lack of hormones in the body that cannot be measured using conventional methods, since the measured concentrations in the blood are normal. ”
Treatment with leptin successful Based on the new findings, Wabitsch decided to treat the patient with artificially produced leptin. After only a few days, a clear effect was recognizable, the excessive appetite disappeared. Over the course of the next few weeks, the boy lost a lot of weight and his metabolism recovered. Leptin may also play a major role in the treatment of diabetes in the future. Last year, Swiss scientists led by Roberto Coppari from the University of Geneva carried out studies on mice with diabetes in which they injected leptin directly into the animal's brain in order to identify the brain cells that are responsible for the blood sugar-lowering effects of leptin . The scientists succeeded in identifying the tissues that could absorb blood sugar through the leptin. At that time it was announced that these tissues could be targeted for therapies in the future. According to Coppari, an alternative to insulin is emerging. (ad)
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