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Case Reports
. 2011 Mar;35(3):457-61.
doi: 10.1038/ijo.2010.168. Epub 2010 Aug 24.

Bariatric surgery in a patient with complete MC4R deficiency

I R Aslan  1 , S A Ranadive, B A Ersoy, S J Rogers, R H Lustig, C Vaisse
Affiliations
Case Reports

Bariatric surgery in a patient with complete MC4R deficiency

I R Aslan et al. Int J Obes (Lond). 2011 Mar.

Abstract

Bariatric surgery is often successful for treatment of severe obesity. The mechanisms of weight loss after bariatric surgery and the role of central energy homeostatic pathways in this weight loss process are not well understood. The study of individuals with complete loss of function of genes important in the leptin-melanocortin system may help establish the significance of these pathways for weight loss after bariatric surgery. We describe the outcome of bariatric surgery in an adolescent with compound heterozygosity and complete functional loss of both alleles of the melanocortin 4 receptor (MC4R). The patient underwent laparoscopic adjustable gastric banding and truncal vagotomy at years of age, which resulted in initial, but not long-term weight loss. Our experience with this patient suggests that complete MC4R deficiency impairs response to gastric banding and results in poor weight loss after this surgery.

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Figures

Figure 1
Figure 1
Patient's weight growth curve from ages 0 to 18 y/o and post-bariatric surgery weight from baseline weight prior to surgery until 12 months of follow-up.
Figure 2
Figure 2
Patient's pedigree showing direct MC4R sequencing from parents (A) and patient (B). The mutant genes were cloned into pcDNA 3.1: Clone 1, MC4R 750-751 delGA; Clone 2, MC4R 873-875 delCAT.
Figure 3
Figure 3
Functional analysis of mutant MC4Rs. Dose-response to α-MSH in mutant and wild-type receptor. Data points represent means ± SEM of at least 3 experiments performed in triplicate. The data are expressed as a percentage of the maximal wild-type activity.
See this image and copyright information in PMC

References

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