Researchers have identified a crucial obesity gene, providing hope in the fight against a severe disease affecting millions.

Researchers at the UT Southwestern Medical Center have identified the OTP gene, which plays a crucial role in regulating hunger and body weight, potentially providing new insights for obesity treatment. There are numerous factors contributing to weight gain, and scientists have yet to discover the most effective and straightforward approach to target for therapy, diets, and medications. The newly discovered gene may be the target that changes the situation, according to Knowridge.

A study published in the journal Science Translational Medicine demonstrated how OTP influences the function of the melanocortin 4 receptor (MC4R), a protein in the hypothalamus responsible for regulating our appetite. Dysfunction of MC4R is linked to severe obesity, while increased MC4R activity offers protection against weight gain. The findings pave the way for developing treatments for specific genetic forms of obesity, a condition affecting over a billion people worldwide.

Under the guidance of Dr. Chen Liu, an associate professor of internal medicine and neurology, the research showed that OTP directly regulates the production of MC4R in hypothalamic neurons. To investigate the role of OTP, researchers genetically modified mice to disable this gene. When fed a high-fat diet, these mice gained significant weight due to overeating and produced considerably less MC4R compared to normal mice.

This alteration highlighted the importance of OTP in controlling appetite and metabolism. Further collaboration with the University of Cambridge identified children with severe early-onset obesity associated with OTP mutations. Mice engineered to mimic these mutations exhibited similar health issues, including obesity, high cholesterol levels, fatty liver disease, and type 2 diabetes.

In their therapeutic experiment, researchers treated the modified mice with setmelanotide—a drug already approved for treating rare genetic obesity related to MC4R deficiency. The treatment eliminated obesity and metabolic issues in the mice, suggesting that setmelanotide could be effective for treating OTP-related obesity in humans.

Analysis of the UK Biobank genetic database confirmed these conclusions, showing that individuals with OTP mutations are significantly more likely to suffer from obesity, further establishing OTP as a key gene in weight regulation. Dr. Liu emphasized the practical implications of the research, noting that the results not only deepen the understanding of severe genetic forms of obesity but also offer practical solutions to this issue.

Their discovery highlights the possibility of using existing medications to treat previously unrecognized forms of obesity, potentially speeding up the development of targeted therapies. This research underscores the complexity of genetic factors in obesity and the importance of understanding the neural pathways controlling hunger.

While the identification of OTP as a regulator of MC4R is a significant breakthrough, the authors acknowledge that further work is needed to assess the prevalence of OTP mutations in the general population and their interaction with environmental factors. Clinical trials in humans will be critical for determining how effectively these findings translate from mice to patients.

According to the World Health Organization, over 1 billion people worldwide are classified as obese, which has significant implications for governments and their populations across various sectors. Approaches targeting pathways related to OTP could represent a step forward in addressing this issue.

Important! This article is based on the latest scientific and medical research and does not contradict them. The text is for informational purposes only and does not contain medical advice. For diagnosis, please consult a physician.