scholarly journals Identification of p.Met215Ile mutation of the MC4R gene in a Moroccan woman with obesity

2021 ◽  
Vol 9 (11) ◽  
Author(s):  
Meriem El Fessikh ◽  
Hakim Belghiti ◽  
Zouhair Elkarhat ◽  
Hassania Guerinech ◽  
Nadia Dakka ◽  
...  
Keyword(s):  
Mc4r Gene ◽  
Moroccan Woman

scholarly journals Identification of p.Met215Ile mutation of the MC4R gene in a Moroccan woman with obesity

2021 ◽  
Author(s):  
Meriem El Fessikh ◽  
HAKIM BELGHITI ◽  
ZOUHAIR ELKARHAT ◽  
HASSANIA GUERINECH ◽  
Nadia DAKKA ◽  
...  
Keyword(s):  
Morbid Obesity ◽  
Protein Structure ◽  
Hydrophobic Interactions ◽  
Rare Mutation ◽  
Mc4r Gene ◽  
Moroccan Woman

The MC4R is involved in the leptin-melanocortin pathway which mutations can lead to severe forms of obesity. We report one rare mutation p.Met215Ile in a woman with morbid obesity. This mutation leads to changes in protein structure through the loss of hydrophobic interactions and it is predicted to be disease-causing.

Indexes of reproductive ability and their repeatability in sows of different genotypes, taking into account the polymorphism g.1426g> a of the Mc4r gene

2020 ◽  
pp. 49-62 ◽  
Author(s):  
Viktor Khalak ◽  
Vasyl Voloshchuk ◽  
Konstiantyn Pochernyaev ◽  
Serhii Smyslov ◽  
Maria Ilchenko
Keyword(s):  
Receptor Gene ◽  
Live Weight ◽  
Multiple Births ◽  
Large White ◽  
Mc4r Gene ◽  
Litter Weight ◽  
Reproductive Ability ◽  
Large White Breed ◽  
White Breed ◽  
Consolidation Coefficient

The results of studies of the reproductive ability of sows of different genotypes are given taking into account the polymorphism g.1426G> A of the MC4R gene, the factor of repeatability of characters is determined, and the economic efficiency of the research results is calculated. The experimental part of the research was carried out in the conditions of the «Druzhba-Kaznacheevka» LTD in Dnipropetrovsk region. The objects of research were sows of the Large White breed. It was determined that sows of the main herd, according to signs of reproductive ability, belong to class I and class elite. The experiment showed that sows of genotype AG exceeded their peers of others (GG and AA) in terms of “born piglets total, heads” by 1.6 and 0.7 heads, “Live piglets born (multiple births), heads - by 1 6 and 0.9 heads, “the mass of the litter at the time of birth, kg” - by 2.7 - 1.3 kg., “the mass of the litter at the time of weaning at the age of 28-35 days, kg” - by 5, 1 - 3.9 kg. The difference between animals of the indicated genotypes is: for large-foetus - 0.06-0.01 kg, the index "evenness of the sow’s litter in live weight of piglets at birth, points" - 1.05-1.84 points, index of N. D. Berezovsky - 3.75 -2.36 points. The index of the safety of piglets before weaning ranged from 84.4 to 93.0 %. It was proved that the minimum value of the index “evenness of the sow’s littar in live weight of piglets at the time of birth, points (7.76 ± 1,082 points) are characterized by sows of genotype AA, in which the rate of multiple pregnancy ranged from 8 to 14 pigs, and the value of the sign“ large-foetus, kg "equaled 1.37 kg. The repeatability coefficient for sows of the main herd and sows of the Large White breed of different genotypes for the melanocortin 4 (MC4R) receptor gene ranges from -0.916 ± 0.1418 (І-IV farrow, genotype - GG, sign - “piglet safety before weaning, %) to 0.978 ± 0.0738 (I-V farrow, genotype - GG, sign - “large foetus”, kg ”). The maximum value of the phenotypic consolidation coefficient was found in sows of genotype AA according to the following quantitative characteristics: “live piglets (multiple births), heads.”, “litter weight at the time of birth, kg”, “litter weight at weaning age of 28-35 days, kg "," the safety of piglets before weaning ,% ". The sows of the genotype GG belong to the unconsolidated group according to the signs of reproductive qualities. The use of sows of the genotype for the melanocortin 4 (MC4R) AG receptor gene provides additional products at the level of 5.15 %, and its cost is 165.41 UAH /head. Keywords: sow, breed, reproductive ability, MC4R gene, genotypic consolidation coefficient, variability, correlation, repeatability.

scholarly journals The Obesity Risk SNP (rs17782313) near the MC4R Gene Is Not Associated with Brain Glucose Uptake during Insulin Clamp—A Study in Finns

2021 ◽  
Vol 10 (6) ◽  
pp. 1312
Author(s):  
Eleni Rebelos ◽  
Miikka-Juhani Honka ◽  
Laura Ekblad ◽  
Marco Bucci ◽  
Jarna C. Hannukainen ◽  
...  
Keyword(s):  
Glucose Uptake ◽  
Statistical Parametric Mapping ◽  
Obesity Risk ◽  
Melanocortin System ◽  
Single Nucleotide ◽  
Brain Glucose ◽  
Mc4r Gene ◽  
Insulin Clamp ◽  
Positron Emission ◽  
Fractional Uptake

The melanocortin system is involved in the control of adiposity through modulation of food intake and energy expenditure. The single nucleotide polymorphism (SNP) rs17782313 near the MC4R gene has been linked to obesity, and a previous study using magnetoencephalography has shown that carriers of the mutant allele have decreased cerebrocortical response to insulin. Thus, in this study, we addressed whether rs17782313 associates with brain glucose uptake (BGU). Here, [18F]-fluorodeoxyglucose positron emission tomography (PET) data from 113 Finnish subjects scanned under insulin clamp conditions who also had the rs17782313 determined were compiled from a single-center cohort. BGU was quantified by the fractional uptake rate. Statistical analysis was performed with statistical parametric mapping. There was no difference in age, BMI, and insulin sensitivity as indexed by the M value between the rs17782313-C allele carriers and non-carriers. Brain glucose uptake during insulin clamp was not different by gene allele, and it correlated with the M value, in both the rs17782313-C allele carriers and non-carriers. The obesity risk SNP rs17782313 near the MC4R gene is not associated with brain glucose uptake during insulin clamp in humans, and this frequent mutation cannot explain the enhanced brain glucose metabolic rates in insulin resistance.

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.

Association study of rs17782313 polymorphism near MC4R gene with obesity/overweight, BMI, and hedonic hunger among women from Northwestern Iran

2021 ◽  
pp. 1-12
Author(s):  
Mahan Narjabadifam ◽  
Morteza Bonyadi ◽  
Seyed Abbas Rafat ◽  
Reza Mahdavi ◽  
Fereshteh Aliasghari
Keyword(s):  
Medical Condition ◽  
Sequencing Data ◽  
Mc4r Gene ◽  
Melanocortin 4 Receptor ◽  
Group Methods ◽  
Pcr Rflp ◽  
Hedonic Hunger ◽  
Hardy Weinberg Equilibrium ◽  
Northwestern Iran ◽  
Different Populations

BACKGROUND: Obesity, as a medical condition, results from interactions between environmental and genetic factors. The rs17782313 polymorphism, located 188kb downstream of the Melanocortin 4 Receptor (MC4R) gene, is one of the essential candidate genetic markers that has shown the highest association with obesity in different populations. OBJECTIVE: This study aimed to investigate the possible associations of rs17782313 polymorphism near the MC4R gene with obesity/overweight, body mass index (BMI), and hedonic hunger among women from the Iranian Azeri ethnic group. METHODS: Five hundred sixty-three women, composed of 396 patients with obesity/overweight and 167 unrelated healthy controls, were genotyped for the rs17782313 polymorphism by applying the polymerase chain reaction-restriction fragment length polymorphism (PCR–RFLP) method. RESULTS: This population was in Hardy-Weinberg equilibrium (P = 0.878). The study confirmed a significant association of rs17782313 with obesity, where subjects carrying the C/C genotype had higher odds of obesity (OR = 2.681, P = 0.005, 95%CI:1.340–5.365). Also, C allele carriers have statistically significantly higher BMI scores than those carrying the T allele (P = 0.029). However, no significant associations were found among PFS scores and genotypic/allelic groups of rs17782313 polymorphism (P = 0.368). CONCLUSIONS: Our findings suggest that rs17782313 polymorphism is strongly associated with obesity and BMI but not with hedonic hunger among Northwest Iran women. Moreover, the sequencing data analysis in several homozygous and heterozygous carriers of the C allele led to identifying a novel frameshift variant with TCT deletion (rs534212081) in the 166 upstream of rs17782313, which has not been reported so far.

scholarly journals Melanocortin-4 receptor and leptin as genes for the selection of superior Madrasin cattle

2021 ◽  
pp. 3224-3228
Author(s):  
Budi Utomo ◽  
Rimayanti Rimayanti ◽  
Indah Norma Triana ◽  
Amaq Fadholly
Keyword(s):  
Genetic Improvement ◽  
Fragment Length Polymorphism ◽  
Growth Traits ◽  
Molecular Characteristics ◽  
Chain Reaction ◽  
Mc4r Gene ◽  
Melanocortin 4 Receptor ◽  
Polymerase Chain ◽  
Selection Of ◽  
Restriction Fragment Length

Background and Aim: The genetic improvement of cattle through livestock section is based on quantitative, qualitative, and molecular characteristics. This study examined polymorphisms of the melanocortin-4 receptor (MC4R) and leptin genes as a reference for the selection of superior breeds in Madrasin cattle. Materials and Methods: The leptin and MC4R genes of Madrasin cattle were amplified using polymerase chain reaction (PCR); then, restriction fragment length polymorphism of the leptin gene was performed using the restriction enzyme BsaA1, at site 2793 with ACGT point position. Results: The leptin gene was divided into three bands, namely, AA with one fragment (522 bp), CG with two fragments (441 bp and 81 bp), and AG with three fragments (522 bp, 441 bp, and 81 bp). The MCR-4 gene was divided into three bands, namely, 493 bp, 318 bp, and 175 bp. Conclusion: The MC4R and leptin genes can act as molecular markers for growth traits in Madrasin cattle and can be used to genetically optimize and improve growth. The GG allele of the MC4R gene and the AA allele of the leptin gene can be used in Madrasin cattle.

scholarly journals Simultaneous Coexistence of Thyrotropin-Prolactin-Secreting Adenoma and Papillary Thyroid Carcinoma

2021 ◽  
Vol 2021 ◽  
pp. 1-8
Author(s):  
Somaya Safi ◽  
Yousra Benabdelfedil ◽  
Sara Derrou ◽  
Faycal El Guendouz
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Complete Response ◽  
Thyroid Stimulating Hormone ◽  
Suppressive Therapy ◽  
Papillary Thyroid ◽  
Case Presentation ◽  
Moroccan Woman ◽  
Potential Link ◽  
Concurrent Case

Background. The thyrotropin-secreting adenomas are very rare and even more rare when they simultaneously coexist with thyroid carcinoma. So far, only sixteen cases have been reported in the literature. Here, we present a unique case of successful management of a concurrent case of thyrotropin-prolactinoma with papillary thyroid carcinoma. Case Presentation. A 50-year-old Moroccan woman underwent a total thyroidectomy and complementary totalization by iratherapy for papillary thyroid carcinoma, who presented persistence of an inappropriate secretion of the thyroid-stimulating hormone (TSH > 4 mUI/L) despite of levothyroxine suppressive therapy (300 μg/d). After eliminating noncompliance, interfering medicines, and thyroid malabsorption, a pituitary adenoma (12 mm) was documented at magnetic resonance imaging. The patient has had transsphenoidal pituitary adenomectomy with histology confirming a thyrotropin-prolactin-secreting adenoma. After surgery and lanreotide treatment failures, we noted a complete response (TSH < 0.5) with cabergoline treatment (3 mg/week). Conclusion. The unusual association of thyroid adenocarcinoma and TSHoma enriches the hypothesis of a potential link between thyrotropic hypersecretion and thyroid carcinogenesis. Our case also illustrates the difficulty of monitoring thyroid carcinoma in nonremission of a TSHoma.

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 Melanocortin-4 Receptor (MC4R) gene polymorphism and its effect on growth traits in Madura cattle

2019 ◽  
Vol 44 (1) ◽  
pp. 38
Author(s):  
P. W. Prihandini ◽  
S. Sumadi ◽  
G. Suparta ◽  
D. Maharani
Keyword(s):  
Growth Traits ◽  
Balance Control ◽  
Direct Sequencing ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Mc4r Gene ◽  
Melanocortin 4 Receptor ◽  
Pcr Rflp ◽  
Reverse Primer ◽  
Selection For

Melanocortin-4 receptor (MC4R) gene has an important role in the regulation of feed intake and energy balance control. The objective of this study was to identify the single nucleotide polymorphisms (SNPs) of MC4R gene and their association with growth traits in Madura cattle. A total of 198 calves were used in this study.Forward primer: 5’-GTCGGGCGTCTTGTTCATC-3’and reverse primer: 5’-GCTTGTGTTTAGCATCGCGT-3’ were used to amplify approximately 493 bp of MC4R gene. The results showed that two SNPs, g.1133C>G and g.1108C>T were identified by direct sequencing. The PCR-RFLP method was performed to genotype all individuals studied based on SNP g.1133C>G, and its SNP was significantly associated with shoulder height (SH) at yearling age (P<0.05). Animals with GG genotype had a higher SH (110.35±6.40cm) than those with CC (102.00±8.00 cm) and CG genotype (105.96±6.23 cm). The SNP g.1133 C>G changed amino acid from valine to leucine. In conclusion, the SNP g.1133C>G of the MC4R gene may be used as a marker-assisted selection for SH trait in Madura cattle.

scholarly journals Identification of MC4R gene and its association with body weight and body size in Kebumen Ongole Grade cattle

2018 ◽  
Vol 43 (2) ◽  
pp. 87
Author(s):  
D. Maharani ◽  
A. Fathoni ◽  
S. Sumadi ◽  
T. Hartatik ◽  
M. Khusnudin
Keyword(s):  
Body Length ◽  
Growth Traits ◽  
Average Daily Gain ◽  
Pcr Amplification ◽  
Growth Trait ◽  
Chest Circumference ◽  
Nucleotide Polymorphisms ◽  
Chi Square ◽  
Mc4r Gene ◽  
Genotype Frequencies

MC4R gene is known as an important candidate gene for the growth trait. The purpose of this research was to identify the MC4R gene in Kebumen Ongole grade cattle and examine its association with growth traits. Data of birth weight (BW), weaning weight (WW), birth body length (BBL), birth chest circumference (BCC), birth shoulder height (BSH), weaning body length (WBL), weaning chest circumference(WCC), weaning shoulder height (WSH) and average daily gain (ADG) were collected and used for analysis of MC4R gene. Sixty blood samples were collected for DNA isolation and PCR amplification. The single nucleotide polymorphisms (SNP) g.1133 C>G was used for genotyping by using PCR-RFLP methods. The frequenciy of G allele (0.59) was greater than C allele (0.41). The highest genotype frequencies have been detected in CG heterozygote animals (0.52) followed by GG (0.33) and CC (0.15) in homozygote animals. The results of Pearson ‘s Chi-square test indicated that the population was not deviate (P>0.05) from the Hardy-Weinberg equilibrium (HWE). The SNP g. 1133 C>G of MC4R gene indicated affecting high birth body length with GG genotype (P<0.05). In conclusion, the SNP g. 1133 C>G may can be a marker for birth body length of calf selection.

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