A leptin missense mutation associated with hypogonadism and morbid obesity

@article{Strobel1998ALM,
  title={A leptin missense mutation associated with hypogonadism and morbid obesity},
  author={A Strobel and Tarik Issad and Luc Camoin and Metin Ozata and Arthur Donny Strosberg},
  journal={Nature Genetics},
  year={1998},
  volume={18},
  pages={213-215}
}
Obesity and Cardiovascular Disease.
TLDR
A scientifically based harmonized definition of MHO is proposed, which will hopefully contribute to more comparable data in the future and a better understanding on the MHO subgroup and its CVD prognosis.
Monogenic forms of childhood obesity due to mutations in the leptin gene
TLDR
This review describes the molecular and cellular characteristics of the eight distinct mutations found so far in humans caused by mutations in the leptin gene.
Mutations in the genes encoding for leptin and its mediators: induction of obesity with various concomitant pathological conditions
TLDR
Mutations in LEP cause more serious pathological changes than LEPR mutations, and mutations in POMC, in the heterozygous state predispose to obesity in the absence of concomitant disorders.
A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient.
TLDR
This study presents the third reported mutation of the LEP gene, N103K, identified in an Egyptian patient with very low serum leptin levels and severe early onset obesity, and will provide further insight into the physiologic role of leptin in human obesity.
Insulin Resistance: Childhood Precursors of Adult Disease
TLDR
The metabolic syndrome and related disorders in children and adolescents worldwide and the important convergence of endocrinology and hepatology, and treatment effects of Exercise in Metabolic Syndrome and Diabetes, are studied.
Obesity and lipodystrophy--where do the circles intersect?
TLDR
The intersection of obesity and lipodystrophy results in insulin resistance, which may be unlocked by elucidating the roles of these factors in pathways that control insulin sensitivity and glucose uptake.
Bedeutung komplexer Kohlenhydrate in der Regulation der Ghrelin-Sekretion
Ghrelin ist ein aus dem Magen freigesetztes Hormon, das die Nahrungsaufnahme stimuliert. Nach gemischten Testmahlzeiten sinkt Ghrelin postprandial und steigt anschliesend wieder an. In dieser Arbeit
A heliocentric view of leptin
  • G. Frühbeck
  • Medicine, Biology
    Proceedings of the Nutrition Society
  • 2001
TLDR
Considerable evidence for systemic effects of leptin on specific tissues and metabolic pathways indicates that leptin operates both directly and indirectly to orchestrate complex pathophysiological processes.
Nutrition Society Medal Lecture A heliocentric view of leptin
Abbreviations: OB-R, leptin receptor; SNAP, S-nitroso-N-acetyl-penicillamine; STAT, signal transducers and activators of transcription. Corresponding author: Dr Gema Frühbeck, fax +34 948 29 65 00,
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 13 REFERENCES
Congenital leptin deficiency is associated with severe early-onset obesity in humans
TLDR
The severe obesity found in two severely obese children who are members of the same highly consanguineous pedigree provides the first genetic evidence that leptin is an important regulator of energy balance in humans.
Obese (ob) gene defects are rare in human obesity.
TLDR
It is concluded that the cloning and subsequent analysis of the ob-gene has not provided information that can, by itself, explain the genetic component in the development of human obesity.
Absence of Mutations in the Human OB Gene in Obese/Diabetic Subjects
TLDR
No coding sequence polymorphism was found, suggesting that mutations in the coding sequence of the OB gene do not constitute a common cause of increased body weight in humans.
Correction of the sterility defect in homozygous obese female mice by treatment with the human recombinant leptin
TLDR
It is shown that repeated administration of only the recombinant human ob protein, leptin, into homozygous female ob/ob mice can correct their sterility, thus resulting in ovulation, pregnancy and parturition.
Heterologous expression of human vasopressin-neurophysin precursors in a pituitary cell line: defective transport of a mutant protein from patients with familial diabetes insipidus.
TLDR
The results suggest that the mutation within the conserved part of NP alters the conformation of the precursor and thus triggers its retention in the ER.
Evidence against either a premature stop codon or the absence of obese gene mRNA in human obesity.
TLDR
Evidence that ob gene expression is increased in human obesity is provided; furthermore, the mutations present in the mouse ob gene were not detected in the human mRNA population.
Inefficient Membrane Targeting, Translocation, and Proteolytic Processing by Signal Peptidase of a Mutant Preproparathyroid Hormone Protein (*)
TLDR
The inability of the mutant signal sequence to interfere with the targeting and processing of other secreted proteins does not support obstruction of the translocation apparatus as the mechanism underlying the dominant mode of inheritance of hypoparathyroidism in this family.
Missense mutation (G480C) in the CFTR gene associated with protein mislocalization but normal chloride channel activity.
TLDR
This appears to be the first identification of a CFTR mutant with a single amino acid substitution in which the sole basis for disease is mislocalization of the protein.
Cold pressor test in diabetic autonomic neuropathy.
TLDR
The systoliccold pressor test results showed no difference between patients with or without parasympathetic dysfunction but diastolic cold pressor results in patients with sympathetic dysfunction were significantly lower than the results of the patients without sympathetic dysfunction.
Positional cloning of the mouse obese gene and its human homologue
TLDR
The ob gene product may function as part of a signalling pathway from adipose tissue that acts to regulate the size of the body fat depot.
...
1
2
...