Overweight researchers discover new disease

Extreme overweight: researchers discover new disease

01/13/2015

Scientists in Ulm have discovered a new disease in a small child. The boy suffered as a three-year old extreme overweight and weighed already over 40 kilograms. The discovery is considered by experts „pioneering“ designated.

Three year old weighed 40 kilos
In Ulm, doctors and scientists have discovered a new disease in a three-year-old child. The little boy was suffering from severe obesity and already weighed more than 40 kilos. It has been reported that a non-biologically active hormone called leptin causes extreme overweight. 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 Paediatrics and Youth, said: „The discovery is groundbreaking.“ So far, the possible occurrence of biologically inactive signaling molecules in medicine has been largely ignored.

Hormone inhibits food intake in the brain
The scientists published their findings in the journal „New England Journal of Medicine“. „The findings here let us wake up and search for comparable diseases in other areas“, so Debatin. The hormone leptin (Greek leptos = slender), which was discovered in 1994 in genetically obese mice, is produced in adipose tissue as a function of fat cell size and fat mass 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, making the fat stores emptier again. However, if the hormone can not be produced due to a change in the genome, the brain receives no saturation signal, which means that unrestrained food is absorbed and this leads to extreme overweight.

Disease so far identified by blood test
Patients with this hereditary disease have been identified by a blood test. If leptin was detectable in the bloodstream, the diagnosis was made „Leptin deficiency“ posed. In the case of the child in Ulm, normal, even very high levels of the hormone were measured. Contrary to common guidelines had then examined the leptin gene and found - completely surprising - a mutation. „This constellation of findings has reminded me of other pathologies of childhood endocrinology in which protein hormones are produced by the body and are also measurable in the blood, but have no effect. We then talk about so-called bioinactive hormones“, explained Professor Martin Wabitsch, Head of the Department of Pediatric Endocrinology at the University Hospital. He continued: „The information of the messenger does not arrive at the destination. This simulates to the body a hormone deficiency that is not measurable by conventional methods, as 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 evident, the excessive appetite disappeared. Over the next few weeks, the boy decreased significantly and his metabolism recovered rapidly. Leptin may also play a major role in the treatment of diabetes in the future. Last year, Swiss scientists headed by Roberto Coppari from the University of Geneva conducted studies on mice with diabetes, injecting leptin directly into the animals' brains, to identify the brain cells responsible for the blood sugar-lowering effect of leptin , The scientists were able to identify the tissues that could take up blood sugar through leptin. At that time, it was reported that these tissues could be specifically addressed in the future for therapies. According to Coppari, an alternative to insulin is emerging. (Ad)

Image: Petra Bork