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Doctors have identified genetic mutations that cause insatiable hunger

A new case report shows that two children with extreme hunger and insatiability that caused them to overeat had very rare genetic mutations that interfere with the function of lepitin.

Leptin is a hormone that tells the body when it is full. After white fat cells make leptin, this hormone travels to the brainstem and hypothalamus, where it helps control appetite.

While ghrelin, as a hunger hormone, is constantly fluctuating, rising when fasting and falling after eating, leptin levels remain relatively stable and correlate with total body white fat. Therefore, leptin tells the body how much energy it has stored in fat, and when these stores become too low, it puts the body into extreme starvation mode.

Rarely, people may carry mutations that interfere with the production or secretion of leptin or inhibit its effects in the brain. to report Live Sciencebefore studying a new case that was recently published in New England Journal of Medicine was published, scientists had found 21 genetic variants that interfered with leptin production, release, or sensitivity to it, causing an insatiable hunger known as hyperphagia.

In a new case report, the authors describe two unrelated children, a 14-year-old boy and a 2-year-old girl, who had slightly different genetic mutations in the leptin gene. Both children had high levels of leptin in their blood, which corresponded to their body fat percentage.

After ruling out Prader-Willi syndrome and Bardett-Biddle syndrome (two other genetic syndromes that cause increased appetite and weight gain in children), doctors looked at each child’s leptin gene, called LEP. They found that each child had a distinct version, or variant, of the LEP gene. They named the male variant P64S and the female variant G59S. These genes encode slightly modified versions of leptin.


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