Novel Mutation in Leptin Gene Tied to Early-Onset Obesity

Share this content:
Novel Mutation in Leptin Gene Tied to Early-Onset Obesity
Novel Mutation in Leptin Gene Tied to Early-Onset Obesity

WEDNESDAY, Dec. 31, 2014 (HealthDay News) -- A mutation in the gene encoding leptin (LEP) resulting in biologically inactive leptin can cause early-onset extreme obesity, according to a brief report published in the Jan. 1 issue of the New England Journal of Medicine.

Martin Wabitsch, M.D., Ph.D., from the University of Ulm in Germany, and colleagues describe a case of a 2-year-old boy with early-onset extreme obesity.

Using standard protocols for LEP sequencing on genomic DNA, the researchers identified a novel homozygous transversion (c.298G→T). This resulted in a change from aspartic acid to tyrosine at amino acid position 100 (p.D100Y). The patient had high circulating levels of mutant leptin, which was unable to bind to or activate the leptin receptor. In leptin deficient ob/ob mice, the mutant protein failed to reduce food intake and body weight. Eating behavior was rapidly normalized in the patient when treated with recombinant human leptin (metreleptin), resulting in weight loss.

"Given our findings, circulating levels of the hormone that appear to be normal in relation to body mass index and fat mass do not rule out disease-causing mutations in the gene encoding leptin and might obscure the correct diagnosis," the authors write.

Metreleptin was provided by Amylin Pharmaceuticals, Bristol-Myers Squibb, and AstraZeneca.

Full Text (subscription or payment may be required)

Share this content:

is free, fast, and customized just for you!

Already a member?

Sign In Now »

Drug Lookup

Browse drugs by: BrandGenericDisease

Trending Activities

All Professions



Sign up for myCME e-newsletters


More in Home

Pharmacists Should Counsel Patients Fasting for Ramadan

Pharmacists Should Counsel Patients Fasting for Ramadan

Pharmacists can suggest adjustments for meds taken several times per day, those affected by food intake

AUA: Many Have Unused Opioids After Urologic Procedures

AUA: Many Have Unused Opioids After Urologic Procedures

Patients use just over half of initial prescription; highest percentage of unused meds for cystectomy

Over Half of Young Adult Smoke Volume Exposure From Hookahs

Over Half of Young Adult Smoke Volume Exposure ...

Toxicant exposure to tar, carbon monoxide, nicotine lower, but still substantial, compared to cigarettes

is free, fast, and customized just for you!

Already a member?

Sign In Now »