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Ann Pediatr Endocrinol Metab > Volume 10(2); 2005 > Article
A Case of Obese Patient Associated with Melanocortin 4 Receptor (MC4R) Mutation.
Ho Seon Eun, Duk Hee Kim, Jin Sung Lee
1Department of Pediatrics, College of Medicine, Yonsei University, Seoul, Korea. dhkim3@yumc.yonsei.ac.kr
2Department of Endocrinology, College of Medicine, Yonsei University, Seoul, Korea.
3Department of Clinical Genetics, College of Medicine, Yonsei University, Seoul, Korea.
Abstract
There is now widespread recognition that the continuing increase in the prevalence of obesity seen in many countries is likely to have major adverse effects on public health. And genetic factors are important that make individual difference of obesity's severity and expressive time. So it is important roles of study for obesity related genes that have been necessary to development of drug and program to diet and exercise for obesity. In these studies, they were discovered that there are several pattern of genes associated obesity. Especially, monogenic gene is important that is more easier for development of drug and program to diet and exercise for obesity. In instance, leptin, leptin receptor, carboxypeptidase, agouti, melanocortin 4 receptor (MC4R) and agouti-related protein etc. was included monogenic genes. Their mutation or blockage of pathway makes severe and early obesity. Mutation of MC4R is the most common monogenic genes and approximately 6% in severe and early obese patients. We conducted DNA analysis in severe obese patients, and discovered an obese patient associated with MC4R mutation at first in Korea.
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