According to a press release from the Texas Biomedical Research Institute (Texas Biomed), researchers from the Institute have identified another new genetic mutation that they believe can cause rare congenital leptin deficiencies.
About Congenital Leptin Deficiency
Leptin, sometimes called the “satiety hormone,” is a molecule largely responsible for creating the satisfying sensation of a full stomach.
As you eat, fat cells in your body produce leptin. Generally, the larger the fat cell, the more leptin it produces. Leptin binds to specialized leptin receptors found across the body, especially in a region of the brain called the hypothalamus. The hypothalamus is the brain’s control center for hunger, thirst, and other important regulatory functions. After binding to these sites, specialized chemical reactions occur that suppress hunger and create that can’t-eat-another-bite feeling.
People with congenital leptin deficiency (CLD) naturally have low leptin levels. They may never feel full, no matter how much they eat or drink, or how often. Children born with leptin deficiency may become obese within months of birth. CLD is caused by mutations to the LEP gene, which encodes the production of leptin.
Congenital leptin deficiency is incredibly rare. Only a few dozen cases have been recorded throughout global medical literature. CLD can only be treated with daily injections of leptin or synthetic leptin.
First Study of CLD in the Americas
Dr. Raul Bastarrachea and a team of researchers from Texas Biomed recently observed a pair of sisters from Colombia. The two women (now in their 20s) were born at normal weights, but quickly became obese in childhood — a characteristic symptom of congenital leptin deficiency.
Genetic testing showed that both women had mutations to the LEP genes found on their seventh chromosomes. The mutation causes the leptin in their bodies to misfold, leaving the leptin unable to properly bind to its receptors. The case was the first of its kind in the Americas — previously, CLD had only been confirmed in Egypt and several countries in Asia.
Testing also showed that several generations before, blood relatives had married. This practice is common in some parts of the world, though the children of such marriages face numerous health risks, including rare genetic diseases like congenital leptin deficiency.
The sisters are now on a wait list to receive Metreleptin, a synthetic leptin replacement.
Do you think congenital leptin deficiency might be under-reported? Treatments for rare genetic diseases are often incredibly expensive. Do you think daily injections are a viable long-term health solution for much of the world population? Share your thoughts with Patient Worthy!
