Jul 23, 2019 | Updated: 09:15 AM EDT

Researchers Identified New Mutation in the Leptin Gene

Jun 22, 2019 10:49 AM EDT

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Researchers Identified New Mutation in the Leptin Gene
(Photo : Texas Biomed)

Globesity is the new overarching name given to the global obesity epidemic. Raul Bastarrachea, M.D., a scientist from Texas Biomed Staff and his colleagues have discovered a new mutation in the gene that regulates the essential hormone suppressing hunger called leptin. Researchers believe this new mutation could help them understand why people develop an excess of body fat. Dr. Bastarrachea's research is aimed at helping tackle metabolic disorders like cardiovascular disease and diabetes, which are fuelled by obesity and impact millions of people around the world.

According to Dr. Bastarrachea, they keep learning more and more about the role of fat in normal-weight people. By researching what goes wrong when genes don't code correctly for the production of leptin, researchers are coming closer to answers that could help millions of people with metabolic disorders.

In 2000, the pinpointing of the protein Leptin was a massive discovery in the field of metabolic diseases. The Rockefeller University scientists discovered this hormone was missing in rats that randomly became extremely fat in a laboratory setting. Also, humans need enough leptin circulating levels to inform the brain that their body fat content is adequate, and they do not need to keep eating more food. In other words, leptin signals mammals to stop eating.

The deficiency of congenital leptin is a recessive genetic disorder associated with severe early-onset obesity. Dr. Bastarrachea and his co-investigators pointed out in an article in the journal Genes how they examined the case of two sisters in Columbia who started their lives as healthy weight babies but quickly suffered from childhood-onset severe obesity. Prior cases have studied people whose genetics can be traced to Pakistan, Turkey, Egypt, India, and China. This case is the first to be examined in the Americas.

What the scientists discovered is that these two women - now in their 20s - have a mutation in the leptin gene on chromosome 7. The sisters' leptin levels were so low they were below the detection limit of the manufactured test kit. Leptin proteins tend to "misfolded" through the gene mutation, rendering them ineffective and destroying their function.

During the study of family genetics, the researchers noted these women were children of lineal consanguinity means several generations before they married blood relatives. This aspect is a common practice in about a fifth of the world population, mostly in the Middle East, West Asia, and North Africa. Health risks for these children, however, include rare diseases caused by recessive genes.

While researchers need to dig deep with more research to figure out how to combat leptin deficiencies on a large scale, the two Colombian women are the queue to take Metreleptin - a synthetic analog of leptin - a quite expensive injected drug, its effects, however, can be dramatic and life-changing.

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