A novel MC4R mutation associated with childhood-onset obesity: A case report

Doulla, Manpreet; McIntyre, Adam D.; Hegele, Robert A.; Gallego, Patricia

doi:10.1093/pch/19.10.515

Cited by 46 publications

(28 citation statements)

References 14 publications

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“…MRC4 receptor resistance - proopiomelanocortin (POMC) deficiency is also a rare cause of monogenic obesity but in these patients obesity begins in the first year of life and no autonomic dysfunction is described. In addition, there is usually reddish hair and extremely light skin color in POMC deficiency ( 13 , 14 ).…”

Section: Discussionmentioning

confidence: 99%

A Rare Cause of Hypothalamic Obesity, Rohhad Syndrome: 2 Cases

Şiraz

Ökdemir

Direk

et al. 2018

Jcrpe

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Rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) syndrome is a rare disease that is difficult to diagnosis and distinguish from genetic obesity syndromes. The underlying causes of the disease have not been fully explained. Hypothalamic dysfunction causes endocrine problems, respiratory dysfunction and autonomic alterations. Currently there are around 80 reported patients although this is likely due to underdiagnosis due to lack of recognition. We present two female patients suspected of ROHHAD due to weight gain starting in early childhood. Clinical and biochemical findings such as respiratory and circulatory dysfunction, hypothalamic hypernatremia, central hypothyrodism, hyperprolactinemia and central early puberty in these patients matched the criteria for ROHHAD syndrome. ROHHAD syndrome should be considered in the differential diagnosis of monogenic obesity.

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Section: Discussionmentioning

confidence: 99%

A Rare Cause of Hypothalamic Obesity, Rohhad Syndrome: 2 Cases

Şiraz

Ökdemir

Direk

et al. 2018

Jcrpe

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“…A DS difference was found in MCR4 where the concentration of mRNA tended (P < 0.1) to be lower in lambs born from PFA dams (Table 6). Previous studies show that a mutation in MCR4 increases BW (Doulla et al, 2014) due to its importance in regulating appetite (Samana et al, 2003). The increase in the melanocortin receptor has no association with differences in DMI Downloaded from https://academic.oup.com/jas/advance-article-abstract/doi/10.1093/jas/sky360/5099475 by University of Connecticut user on 19 September 2018 A c c e p t e d M a n u s c r i p t in the current experiment.…”

Section: Gene Expressionmentioning

confidence: 98%

Prepartum fatty acid supplementation in sheep. III. Effect of eicosapentaenoic acid and docosahexaenoic acid during finishing on performance, hypothalamus gene expression, and muscle fatty acids composition in lambs1

Martín

Coleman

García

et al. 2018

Journal of Animal Science

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The objectives of this study were to evaluate the effect of feeding an enriched diet with eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) to finishing lambs born from ewes supplemented either with or without EPA and DHA during late gestation on productive performance, muscle fatty acid (FA), and hypothalamus mRNA concentration of metabolic genes and hormone receptors. Lambs born from dams fed during the last 50 d of gestation either with a control diet containing 0.39% Ca salts of palmitic fatty acid distillate (C) or Ca salts enriched with EPA and DHA (PFA) were used. After weaning lambs (n = 70) were blocked by weight (BW) and used in a 2 × 2 factorial into 2 finishing diets containing 1.5% of C or PFA. The 2 factors were the ewe diet and the finishing diet. Lambs (37.9 ± 0.4 kg) were weighed and blood sampled for glucose and NEFA measurements at days 1, 14, 28, and 42. Dry matter intake (DMI) was measured daily. At day 43, 14 females and 14 males were slaughtered, and hot carcass weight, body wall thickness, rib eye area, and FA composition of Longissumus thoracis muscle were evaluated. Female hypothalamuses were obtained and mRNA concentration of hormone receptors, neuropeptides, and their receptors was measured. Lambs born from PFA dams were heavier (P < 0.01). There was a time × finishing diet interaction for BW (P = 0.03), and lambs fed C had a greater BW. Lambs fed C had an increase in DMI (P < 0.01). There were no significant differences in plasma glucose and NEFA concentration (P > 0.1). Lambs born from PFA dams had a greater concentration of C22:0 (P < 0.03). Lambs fed C had higher concentrations of C18:1c15 (P < 0.01), C17:0 (P < 0.09), C18:0 (P < 0.09), and n6/n3 (P < 0.01). Lambs fed PFA had greater concentration (P < 0.05) of C16:1, C22:1, C20:5, C22:5, C22:6, total n3 FA, and total EPA and DHA. There was a significant dam × finishing diet interaction (P ≤ 0.08) on mRNA concentration for MCR3, CCK-R, Cort-R, and CART. Lambs, which had the same treatment as their dams, showed lower overall mRNA concentration than those with different treatments between them and their dams. Lambs born from PFA ewes had lower concentration of MCR4 mRNA (P = 0.09) than C. Agouti-related peptides mRNA concentration was lower in lambs fed PFA (P = 0.06) than C. In conclusion, changes on lamb performance, muscle fatty acid composition, and metabolic neuropeptides depend not only on the lamb diet, but also on the dam diet during late gestation.

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“…Mutations in MCR3, MC4R, and POMC genes have been associated with monogenic forms of obesity. Moreover, MC4R mutations account for about 6% of monogenic obesity cases in children [12]. …”

Section: Genetic Causes Of Metabolic Syndromementioning

confidence: 99%

Metabolic syndrome

Ziki

Mani

2016

Current Opinion in Lipidology

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Purpose of review Metabolic syndrome (MetS) is a cluster of inter-related and heritable metabolic traits, which collectively impart unsurpassed risk for atherosclerotic cardiovascular disease and type 2 diabetes. Considerable work has been done to understand the underlying disease mechanisms by elucidating its genetic etiology. Recent findings Genome-wide association studies (GWAS) have been widely utilized albeit with modest success in identifying variants that are associated with more than two metabolic traits. Another limitation of this approach is the inherent small effect of the common variants, a major barrier for dissecting their cognate pathways. Modest advances in this venue have been also made by genetic studies of kindreds at the extreme ends of quantitative distributions. These efforts have led to the discovery of a number of disease genes with large effects that underlie the association of diverse traits of this syndrome. Summary Substantial progress has been made over the last decade in identification of genetic risk factors associated with the various traits of MetS. The heterogeneity and multifactorial heritability of MetS, however, has been a challenge towards understanding the factors underlying the association of these traits. Genetic investigations of outlier kindreds or homogenous populations with high prevalence for the disease can potentially improve our knowledge of the disease pathophysiology.

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A novel MC4R mutation associated with childhood-onset obesity: A case report

Cited by 46 publications

References 14 publications

A Rare Cause of Hypothalamic Obesity, Rohhad Syndrome: 2 Cases

A Rare Cause of Hypothalamic Obesity, Rohhad Syndrome: 2 Cases

Prepartum fatty acid supplementation in sheep. III. Effect of eicosapentaenoic acid and docosahexaenoic acid during finishing on performance, hypothalamus gene expression, and muscle fatty acids composition in lambs1

Metabolic syndrome

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