Two children developed insatiable hunger and severe obesity due to rare genetic mutations, their doctors reported.
Two children who experienced intense, insatiable hunger that drove them to overeat have rare, never-before-seen genetic mutations that interfere with leptin, a key hormone that helps tell the body when it is full, a new case report says.
Rarely, people can carry genetic mutations that interfere with the production or secretion of leptin, or effectively block its effects in the brain. Prior to the new case report, published Wednesday in The New England Journal of Medicine, scientists had found 21 genetic variants that messed with leptin production, release or sensitivity, resulting in insatiable hunger, known as hyperphagia.
Through studies with human cells in lab dishes, the team tested how well the children's leptin bound to the receptor it would normally plug into in the brain. Both versions of leptin bound to the receptor, but they triggered"marginal, if any, signaling." In the presence of normal leptin, the variant versions blocked the receptor and didn't allow normal leptin to plug in.
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