scholarly journals The transcript expression profile of the leptin receptor-coding gene assayed with the oligonucleotide microarray technique — Could this be an Anorexia nervosa marker?

2006 ◽  
Vol 11 (1) ◽  
Author(s):  
Małgorzata Janas-Kozik ◽  
Urszula Mazurek ◽  
Irena Krupka-Matuszczyk ◽  
Małgorzata Stachowicz ◽  
Joanna Głogowska-Ligus ◽  
...  
Keyword(s):  
Anorexia Nervosa ◽  
Expression Profile ◽  
Leptin Receptor ◽  
Reference Group ◽  
Receptor Gene ◽  
Oligonucleotide Microarray ◽  
The Body ◽  
Transcript Expression ◽  
Mrna Isoforms ◽  
Psychic Disorders

AbstractAnorexia nervosa is a serious eating disorder with the highest mortality rate of any psychiatric disorder. The DSM-IV classification differentiates two AN types: the restricting type (AN-R) and the binge-eating/purging type (AN-BP). Leptin (LEP) levels can be thought of as a signal to the body of its energy reserves. The leptin receptor (including all its mRNA isoforms) is expressed in many tissues. Our aim was to discover the transcript expression profile of the LEP receptor-coding gene in the peripheral blood mononuclears in AN-R and AN-BP patients. Three young women suffering from Anorexia nervosa (one with AN-BP and two with AN-R) took part in the study, along with three non-anorexic subjects as our reference group. LEP receptor gene expression was examined using the oligonucleotide microarray method (HG-U133A, Affymetrix). The results were normalized using RMAExpress. Next, the accumulation analysis method was used (clustering). Hierarchical clustering resulted in three groups of separate clusters. The first group (cluster I) consisted of AN-R patients. The next group (cluster II) consisted of reference group patients suffering from different psychic disorders not related to eating disorders. Cluster III consisted of two patients — the first with AN-BP and the second with an adaptive disorder.

scholarly journals Severe Early-Onset Obesity in Three Adult Patients Harboring Inactivating Mutations of the Leptin Receptor Gene

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A37-A37
Author(s):  
Carolina Marques Chaves ◽  
Teresa Kay ◽  
Joao Anselmo
Keyword(s):  
Early Onset ◽  
Leptin Receptor ◽  
Reference Range ◽  
Receptor Gene ◽  
Pubertal Development ◽  
Genetic Diagnosis ◽  
The Body ◽  
Homozygous Mutation ◽  
Genetic Sequencing ◽  
Lepr Gene

Abstract Background: Leptin is secreted by white adipocytes in response to fat storage and binds to leptin receptors (LEPR) expressed all over the body particularly in hypothalamic neurons. This hormone regulates several physiologic functions including energy expenditure and appetite. Clinical Case: We describe the clinical and hormonal findings in 3 adult brothers with body mass index (BMI) of 36.7, 50.7, and 46.1 kg/m2, respectively. There is no history of consanguinity in the family and none of the patients exhibited dysmorphic features. A rapid weight gain was noticed during their first few months of life, associated with permanent hyperphagia. At 2 years old, their BMI was already above 25 kg/m2 (> +3SD), and at 10 years old, it was over 40 kg/m2 (> +3SD). The linear growth was within the expected target heights for their parents. They did not seem to present cognitive impairment. The pubertal development began at 16 to 18 years old, and since then they maintained levels and FSH and LH above the upper limit of normal (15.6±3.7mUI/mL and 12.3±2.2mUI/mL, reference range 1.5–12.4 and 1.7–8.6, respectively), but with normal sexual steroids (estradiol 36.4±16.1pg/mL and total testosterone 445±401ng/dL, reference range 11–44 and 249–836, respectively). The thyroid function was normal and none of the patients suffered from dyslipidemia or diabetes, despite high serum insulin levels 26.4±15.8 mU/L (normal 5–10). Genetic sequencing identified a homozygous mutation of the leptin receptor gene in the 3 brothers: c.2357T> C, p. (Leu786Pro). Their parents were heterozygous for the mutation as well as the patients’ daughters. Homozygous carriers of the mutation presented a significantly higher BMI than their heterozygous family members, 44.5±7.1 Kg/m2 vs 32.2±1.7 Kg/m2 (p=0.023), a significantly increased leptin levels, 80±36.4 ng/ml vs 26.3±9.3 ng/ml (p=0.028), and significantly higher weight, 134.6±16.9 vs 89.2±15,2 kg (p=0.021), respectively. Women had higher BMI than men (42.0 ±12.2 Kg/m2 vs 37.9±7.5 Kg/m2, p=0.496) and also higher percentage of fat (46.4±3.1% vs 34.9±6.8%, p=0.108). Serum levels of leptin in homozygous patients were not significantly higher than those measured in 10 patients with adult-onset morbid obesity, 80± 36.4 ng/ml vs 53.8±24.1 ng/ml, respectively (p=0.149). Therefore, serum leptin is not a useful discriminative maker of LEPR gene mutations. Conclusion: Patients with severe early-onset obesity should have a genetic diagnosis workup. Firstly, because clinical trials with MC4R-agonists have raised expectations regarding the treatment of patients with mutations of the LEPR gene. Secondly, and in contradiction to other reports in the literature, our patients were fertile. Therefore, identification of the mutation allows genetic counseling of these patients and their families, including the possibility of Pre-Natal Diagnosis or Pre-Implantation Genetic Diagnosis.

Single nucleotide polymorphisms in the leptin receptor gene: studies in anorexia nervosa

2004 ◽  
Vol 14 (4) ◽  
pp. 191-194 ◽  
Author(s):  
N. D. Quinton ◽  
D. W. Meechan ◽  
K. Brown ◽  
H. Eastwood ◽  
A. I. F. Blakemore
Keyword(s):  
Anorexia Nervosa ◽  
Single Nucleotide Polymorphisms ◽  
Leptin Receptor ◽  
Receptor Gene ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

Association between leptin receptor gene polymorphism and quality of both meat and back fat in large white pigs of ukrainian breeding

2016 ◽  
Vol 3 (2) ◽  
pp. 42-48
Author(s):  
V. Balatsky ◽  
I. Bankovska ◽  
A. Saienko
Keyword(s):  
Gene Polymorphism ◽  
Leptin Receptor ◽  
Receptor Gene ◽  
Intramuscular Fat ◽  
Large White ◽  
Pig Breeds ◽  
Lepr Gene ◽  
Large White Breed ◽  
White Breed

Leptin receptor is one of the components of the system of regulating energy homeostasis of the organism. Leptin receptor gene (LEPR) polymorphism is associated with pig carcass index of the content of intramus- cular fat in its valuable parts, which is particularly important when assessing the quality of their carcasses for processing. Intramuscular fat is associated with meat fl avor characteristics and partly determines its tenderness, juiciness, and other parameters. Aim. To analyze LEPR gene (SNP NM001024587.1, p. 1987 C > T) polymor- phism in populations of various pig breeds and to establish its relationship with the quality of both meat and fat of pigs of Large White breed of Ukrainian breeding. Methods. Genetic-population analysis of nine pig breeds, associative analysis on the search connection of LEPR gene polymorphism with quality of both meat and fat of pigs of Large White breed of Ukrainian breeding. LEPR locus genotyping was performed by High Resolution Melting (HRM). Results. All the studied breeds are characterized by polymorphism of the leptin receptor gene (SNP NM001024587.1, p. 1987 C > T), signifi cant breed specifi city in the distribution of frequencies of alleles was established. Statistically confi rmed effect (p < 0.05) of genotypes LEPR on the content of intramuscular fat, total dry matter and moisture in the meat, as well as the moisture content in the back fat of pigs of Ukrainian Large White breed was revealed. Higher content of intramuscular fat was found in the animals with genotype TT, while a smaller amount of intramuscular fat and more moisture in fat was revealed in heterozygotes. Conclusions. Genetic marker LEPR SNP NM001024587.1, p. 1987 C > T can be used in the marker-assisted selection to predict and improve the performance quality of the meat of pigs of Large White breed of the Ukrainian breeding. These results suggest that porcine leptin receptor gene controls the quality of fat comp- lex – inside muscles and in the dorsal part of the carcass.

Impact of leptin and leptin-receptor gene polymorphisms on serum lipids in Japanese obese children

2010 ◽  
Vol 99 (8) ◽  
pp. 1213-1217 ◽  
Author(s):  
T Okada ◽  
T Ohzeki ◽  
Y Nakagawa ◽  
S Sugihara ◽  
O Arisaka ◽  
...  
Keyword(s):  
Gene Polymorphisms ◽  
Serum Lipids ◽  
Leptin Receptor ◽  
Receptor Gene ◽  
Obese Children ◽  
Receptor Gene Polymorphisms

scholarly journals The Trend in Distribution of Q223R Mutation of Leptin Receptor Gene in Amoebic Liver Abscess Patients from North India: A Prospective Study

2014 ◽  
Vol 2014 ◽  
pp. 1-6 ◽  
Author(s):  
Anil Kumar Verma ◽  
Vineet Ahuja ◽  
Jaishree Paul
Keyword(s):  
Liver Abscess ◽  
Leptin Receptor ◽  
Receptor Gene ◽  
Rflp Analysis ◽  
North India ◽  
Amoebic Liver Abscess ◽  
Fisher Exact Test ◽  
Exact Test ◽  
Pcr Rflp ◽  
A Prospective Study

Host genetic susceptibility is an important risk factor in infectious diseases. We explored the distribution of Q223R mutation in leptin receptor gene of amoebic liver abscess (ALA) patients of North India. A total of 55 ALA samples along with 102 controls were subjected to PCR-RFLP analysis. The frequency of allele “G” (coding for arginine) was in general high in Indian population irrespective of the disease. Our results of Fisher exact test shows that heterozygous mutant (QQ versus QR,P=0.049) and homozygous mutant (QQ versus RR,P=0.004) were significantly associated with amoebic liver abscess when compared with homozygous wild (QQ).

Anorexia Nervosa and Depression in a Woman Blind since the Age of Nine Months

1993 ◽  
Vol 38 (7) ◽  
pp. 469-471 ◽  
Author(s):  
Clifford W. Sharp
Keyword(s):  
Eating Disorders ◽  
Body Image ◽  
Anorexia Nervosa ◽  
Eating Disorder ◽  
Major Depression ◽  
Food Intake ◽  
Older Women ◽  
The Body ◽  
Atypical Presentation ◽  
History Of

A woman aged 58 who has been blind since the age of nine months presented with major depression and a 40 year history of an eating disorder characterized by a restriction of food intake and body disparagement. The case is additional evidence that a specifically visual body image is not essential for the development of anorexia nervosa and supports the view that the concept of body image is unnecessary and unproductive in eating disorders. Greater emphasis should be placed on attitudes and feelings toward the body, and the possibility of an eating disorder should be considered in cases of older women with an atypical presentation.

Body Image in Anorexia Nervosa

1981 ◽  
Vol 26 (4) ◽  
pp. 224-227 ◽  
Author(s):  
David M. Garner
Keyword(s):  
Body Image ◽  
Anorexia Nervosa ◽  
Body Satisfaction ◽  
Body Part ◽  
The Body ◽  
Size Perception ◽  
Whole Body ◽  
Size Estimation ◽  
Psychological Disturbance ◽  
Body Image Disturbances

Despite much recent interest in the objective measurement of body image in anorexia nervosa, many questions remain regarding basic mechanisms responsible for the findings as well as their meaning in the disorder. It is unclear if “whole body” measures assess the same underlying phenomena as the “body part” method, and it is unclear if body image disturbances are etiologic or a byproduct of anorexia nervosa. The possible association between self-esteem and body satisfaction and the relationship of the latter variable to actual size estimation supports the hypothesis that size perception may be closely tied to satisfaction with non-physical aspects of self. Finally it must be determined if over estimation is a function of a general psychological disturbance or of a deficit of specific interest in this disorder. Despite these questions, the way in which anorexic patients see themselves as well as the cognitive and affective responses to this perception remains an interesting and potentially fruitful area of study with this disorder.

Leptin and Leptin Receptor Gene Polymorphisms in Obstructive Sleep Apnea Syndrome

CHEST Journal ◽  
2008 ◽  
Vol 133 (1) ◽  
pp. 79-85 ◽  
Author(s):  
Masayuki Hanaoka ◽  
Xiujun Yu ◽  
Kazuhisa Urushihata ◽  
Masao Ota ◽  
Keisaku Fujimoto ◽  
...  
Keyword(s):  
Obstructive Sleep Apnea ◽  
Sleep Apnea ◽  
Obstructive Sleep Apnea Syndrome ◽  
Gene Polymorphisms ◽  
Leptin Receptor ◽  
Receptor Gene ◽  
Sleep Apnea Syndrome ◽  
Obstructive Sleep ◽  
Apnea Syndrome ◽  
Receptor Gene Polymorphisms
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