Prader Willi Syndrome or one of the causes of obesity in children

Researchers studying stem cells from UConn Health have recently published the findings of a study on Prader Willi's Syndrome in Human Molecular Genetics. The discovery provides clues that could lead to treatment for Prader-Willi, a genetic disorder that occurs in about one in 15. 000 births and is the most common genetic cause of childhood obesity. How Prader Willi Syndrome is manifested Prader Willi Syndrome is a genetic disease that is caused by the loss of function of certain genes. Symptoms that occur in newborns who have this disease are hypotonic muscles, feeding difficulties and a retarded development. Beginning from childhood, those who face Prader Willi have an increased appetite for food, leading to obesity and type 2 diabetes.

Moreover, they may have a slightly slow to moderate intellectual retardation and behavioral problems. Sometimes they have narrow foreheads, small arms and legs, small in height, light skin and can not have children. What is Prader Willi Syndrome Unlike many genetic syndromes that are caused by a mutation in a gene, people with Prader Willi often have the right gene - it just does not work. The gene is inactive due to the fact that it comes from the inherited chromosome and for mysterious reasons our cells use the copy of the paternal genes. When the father's copy is missing, cells can not express their genes at all.

70% of cases occur when the father's chromosome 17 is missing, and 25% have twice the chromosome 15 on the mother's side and none on the father's side. How to Treat Prader Willi Syndrome, named after Andrea Prader, Heinrich Willi and Alexis Labhart, who described it in detail in 1956, has no cure. Some symptoms may be treated, however, especially if treatment is started immediately after birth. Difficulties in feeding babies with this syndrome can be overcome if special tubes are used. Strict food monitoring is necessary from the age of 3 years, and there is a need for an exercise program.

Growth hormone therapy also has an effect on the symptoms. Counseling and medication can help treat behavioral problems. Syndrome affects one in 10. 000 and 30. 000 people, equally women and men.

New studies on this syndrome, Maeva Langouet of UConn Health, post-doctoral, Marc Lalande, professor of genetics and genome science and their colleagues, wondered if it would be possible to reverse this process. Researchers have observed that a particular protein, called ZNF274, has been involved in this process. In the Prader-Willi region of our DNA, the protein seems to act alone, researchers say. Therefore, Langouet and Lalande took stem cells donated by patients with Prader-Willi and carefully removed ZNF274. They then encouraged stem cells to grow in neurons and observed that cells appeared to be completely normal.

They grew and developed as expected. However, the process behind the scientific experiment is still not well known and many questions arise: Does it work directly in human brain cells? . For many people affected by the disorder, eliminating some of the most difficult aspects of the syndrome, such as insatiable appetite and obesity, would be a significant improvement in quality of life and the ability to live independently. But in the future, this new line of research can provide a therapeutic approach for children with Prader-Willi, says Langouet. .