New Syndrome That Features Obesity And Intellectual Disability Identified; Cause Is Small Deletion On Chromosome 6 That Affects Oxytocin-Producing Cells in the Hypothalamus

Scientists at the University of Manchester in the UK have discovered a new genetic syndrome of obesity, over-eating, and mental and behavioral problems in six families, from across the world. Dr. Siddharth Banka, Clinical Senior Lecturer at the Manchester Centre for Genomic Medicine, who led the study, explained: “Our team has [determined] that this new syndrome is caused by a small deletion on chromosome 6 that affects the function of [the] hypothalamus, a region of the brain that plays a number of important roles in the body." Working in collaboration with Dr. Eric Glasgow of the Georgetown University Medical Center in Washington D.C., the two teams used zebrafish models to study the consequences of the chromosome 6 deletion and showed that the deletion has an effect on specific cells in the hypothalamus that produce a hormone called oxytocin. This could help explain why sufferers are often severely obese, find it difficult to control their appetites, and are prone to mood swings and being withdrawn, the researchers say. The study, published online on January 28, 2016 in the American Journal of Human Genetics (AJHG) represents an important step in our understanding of how the hypothalamus and oxytocin control appetite and behavior, says Dr. Banka, who is also a Consultant Clinical Geneticist at Saint Mary's Hospital, in Manchester. “This finding demonstrates the power of human genetic study of rare conditions.” The AJHG article is titled “Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.” Although at an early stage, the researchers hope that the findings will help form part of a picture of how the hypothalamus works and may lead to new treatments in the future.
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