Genetic Deletion Related to Obesity in WAGR Syndrome

August 27, 2008

Brain-derived neurotrophic factor haploinsufficiency is associated with onset of childhood obesity in patients with Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation (WAGR) syndrome, and may be related to energy homeostasis in humans, researchers report in the Aug. 28 issue of the New England Journal of Medicine.

WEDNESDAY, Aug. 27 (HealthDay News) -- Brain-derived neurotrophic factor (BDNF) haploinsufficiency is associated with onset of childhood obesity in patients with Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation (WAGR) syndrome, and may be related to energy homeostasis in humans, researchers report in the Aug. 28 issue of the New England Journal of Medicine.

Joan C. Han, M.D., of the Unit on Growth and Obesity Program in Developmental Endocrinology and Genetics at the National Institutes of Health in Bethesda, Md., and colleagues examined the relationship between body mass index and genotype in 33 patients with WAGR syndrome.

Overall, 58 percent of patients had heterozygous deletions of BDNF and were significantly more likely to have elevated body mass index in childhood compared to patients with intact BDNF, the researchers report. By age 10, all patients with heterozygous BDNF deletions were obese compared to only 20 percent of patients without BDNF deletions. Patients with BDNF deletions had serum BDNF concentrations half that of those with intact BDNF, the report indicates.

"Among persons with the WAGR syndrome, BDNF haploinsufficiency is associated with lower levels of serum BDNF and with childhood-onset obesity; thus, BDNF may be important for energy homeostasis in humans," the authors conclude. "Further studies are needed to assess the potential therapeutic role of BDNF replacement in persons in whom insufficient BDNF protein is produced and the potential contributions of more common allelic variants at this locus for susceptibility to obesity among persons in the general population."

The authors of an accompanying editorial report financial relationships with the pharmaceutical industry.

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