scholarly journals Defect in MAPK Signaling As a Cause for Monogenic Obesity Caused By Inactivating Mutations in the Melanocortin-4 Receptor Gene

2014 ◽  
Vol 10 (10) ◽  
pp. 1128-1137 ◽  
Author(s):  
Shan He ◽  
Ya-Xiong Tao
Keyword(s):  
Receptor Gene ◽  
Mapk Signaling ◽  
Monogenic Obesity ◽  
Melanocortin 4 Receptor ◽  
Melanocortin 4 Receptor Gene ◽  
Inactivating Mutations

Analysis of variation in the melanocortin-4 receptor gene (mc4r) in golden retriever dogs

2010 ◽  
Vol 41 (5) ◽  
pp. 557-557 ◽  
Author(s):  
L. Van Den Berg ◽  
S. M. Van Den Berg ◽  
E. E. C. P. Martens ◽  
H. A. W. Hazewinkel ◽  
N. A. Dijkshoorn ◽  
...  
Keyword(s):  
Receptor Gene ◽  
Golden Retriever ◽  
Melanocortin 4 Receptor ◽  
Melanocortin 4 Receptor Gene ◽  
Analysis Of Variation

Melanocortin-4 Receptor Gene Variation Is Associated with Eating Behavior in Chilean Adults

2015 ◽  
Vol 68 (1) ◽  
pp. 35-41 ◽  
Author(s):  
Javier A. Vega ◽  
Gloria Salazar ◽  
María Isabel Hodgson ◽  
Luis Rodrigo Cataldo ◽  
Macarena Valladares ◽  
...  
Keyword(s):  
Eating Behavior ◽  
Emotional Eating ◽  
Leptin Receptor ◽  
Receptor Gene ◽  
Pathogenic Mutation ◽  
Gene Variation ◽  
Mc4r Gene ◽  
Melanocortin 4 Receptor ◽  
Melanocortin 4 Receptor Gene ◽  
Mc4r Rs17782313

Background/Aims: To evaluate the association between allelic variants of melanocortin receptors -3 and -4 (MC3R and MC4R, respectively) and leptin receptor (LEPR) genes with body mass index (BMI) and eating behavior. Methods: We selected 344 Chilean adults (57.8% women; age 39.1 ± 6.6 years) with a wide variation in BMI (30.3 ± 6.3 kg/m2). The Three-Factor Eating Questionnaire-R18 that measures uncontrolled eating (UE), emotional eating (EE) and cognitive restraint scores was adapted, validated and assessed for association with BMI. Genotypes were determined by polymerase chain reaction followed by restriction fragment length polymorphism techniques and Taqman assays. Results: Higher EE scores were found in obese vs. non-obese in both men (p = 0.01) and women (p < 0.001). UE scores were significantly associated with BMI only in women (p = 0.002). No significant differences in eating behavior scores or BMI were found by LEPR (rs1137101, rs8179183 and rs1137100 polymorphisms) or MC3R (rs3746619 and rs3827103). Carriers of the C allele for MC4R rs17782313 showed significantly higher scores of UE compared to non-carriers (2.3 ± 0.8 vs. 2.0 ± 0.7; p = 0.02). Additionally, we also report a monogenic case of obesity carrying the pathogenic mutation 449C>T (Thr150Ile) in MC4R gene with no apparent alterations in eating behavior scores. Conclusions: UE scores were higher in C-allele carriers of MC4R-rs17782313 compared to non-carriers.

scholarly journals Melanocortin-4 Receptor Gene Mutations in Obese Slovak Children

2015 ◽  
pp. 883-890 ◽  
Author(s):  
D. STANIKOVA ◽  
M. SUROVA ◽  
L. TICHA ◽  
M. PETRASOVA ◽  
D. VIRGOVA ◽  
...  
Keyword(s):  
Sanger Sequencing ◽  
Dna Analysis ◽  
Receptor Gene ◽  
Gene Mutations ◽  
Loss Of Function ◽  
Obese Children ◽  
Mc4r Gene ◽  
Melanocortin 4 Receptor ◽  
Melanocortin 4 Receptor Gene ◽  
Common Etiology

The most common etiology of non-syndromic monogenic obesity are mutations in gene for the Melanocortin-4 receptor (MC485) with variable prevalence in different countries (1.2-6.3 % of obese children). The aim of our study was 1) to search for MC4R mutations in obese children in Slovakia and compare their prevalence with other European countries, and 2) to describe the phenotype of the mutation carriers. DNA analysis by direct Sanger sequencing of the coding exons and intron/exon boundaries of the MC4R gene was performed in 268 unrelated Slovak children and adolescents with body mass index above the 97th percentile for age and sex and obesity onset up to 11 years (mean 4.3±2.8 years). Two different previously described heterozygous loss of function MC4R variants (i.e. p.Ser19Alafs*34, p.Ser127Leu) were identified in two obese probands, and one obese (p.Ser19Alafs*34), and one lean (p.Ser127Leu) adult family relatives. No loss of function variants were found in lean controls. The prevalence of loss-of-function MC4R variants in obese Slovak children was 0.7 %, what is one of the lowest frequencies in Europe.

scholarly journals Deletion of Codons 88–92 of the Melanocortin-4 Receptor Gene: A Novel Deleterious Mutation in an Obese Female

2003 ◽  
Vol 88 (12) ◽  
pp. 5841-5845 ◽  
Author(s):  
Patricia A. Donohoue ◽  
Ya-Xiong Tao ◽  
Malia Collins ◽  
Giles S. H. Yeo ◽  
Stephen O’Rahilly ◽  
...  
Keyword(s):  
Deleterious Mutation ◽  
Receptor Gene ◽  
Melanocortin 4 Receptor ◽  
Obese Female ◽  
Melanocortin 4 Receptor Gene

scholarly journals Investigation of a Genome Wide Association Signal for Obesity: Synthetic Association and Haplotype Analyses at the Melanocortin 4 Receptor Gene Locus

PLoS ONE ◽  
2010 ◽  
Vol 5 (11) ◽  
pp. e13967 ◽  
Author(s):  
André Scherag ◽  
Ivonne Jarick ◽  
Jessica Grothe ◽  
Heike Biebermann ◽  
Susann Scherag ◽  
...  
Keyword(s):  
Gene Locus ◽  
Receptor Gene ◽  
Genome Wide Association ◽  
Melanocortin 4 Receptor ◽  
Genome Wide ◽  
A Genome ◽  
Melanocortin 4 Receptor Gene

scholarly journals Melanocortin-4 receptor gene and physical activity in the Québec Family Study

2004 ◽  
Vol 29 (4) ◽  
pp. 420-428 ◽  
Author(s):  
R J F Loos ◽  
T Rankinen ◽  
A Tremblay ◽  
L Pérusse ◽  
Y Chagnon ◽  
...  
Keyword(s):  
Physical Activity ◽  
Family Study ◽  
Receptor Gene ◽  
Melanocortin 4 Receptor ◽  
Melanocortin 4 Receptor Gene ◽  
Quebec Family Study
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