What More Can Be Learned from the Obesity Gene? People with Congenital Leptin Deficiency Want to Know

1994 was a headline year for many reasons. Figure skating champion Tonya Harding attacked her rival, Nancy Kerrigan, and was stripped of her world title. The “Chunnel” opened between England and France. And Nelson Mandela became president of South Africa.

But for people who suffer from congenital leptin deficiency (CLD), an even bigger event occurred that year. In 1994, the “obese gene” was discovered, leading to an increased understanding of how the hormone leptin triggers hunger — and how obese people have a deficiency of leptin.
But according to a recent article by Harvard Medical School metabolism experts Jeffrey Flier and Eleftheria Maratos-Flier in Cell Metabolism this leptin deficiency discovery hasn’t been the silver bullet for obesity.  In fact, for a variety of reasons, research into leptin replacement therapies remains scant.

“We also have an extremely limited understanding of the physiology of the hormone apart from its role as a starvation signal,” writes Flier. “Perhaps, if translational investigators had conducted hypothesis-generating experiments in humans, they may have uncovered unknown actions of leptin and novel approaches to its successful use in obesity or other disorders.”

Flier calls for more research into leptin’s role in regulating hunger. In fact, lack of leptin also affects people who suffer from another rare disease called congenital generalized lipodystrophy where there is an abnormal lack fat or distribution of fat in the body. So lack of leptin, which causes you to remain hungry even after eating a full meal, can lead to extreme obesity or extreme loss of body fat. The treatment for these polar opposite diseases is the same: leptin replacement therapy.

CLD is super rare. It affects only about 30 people in the US, according to Orphanet. But since more than one-third of all adults in the U.S. are designated as obese,  there’s speculation for how leptin might help this epidemic. At present, however, replacement therapy is only available to those born with leptin deficiency.

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