Monogenic Forms of Obesity

Huvenne, Hélène; Dubern, B.

doi:10.1007/978-3-319-12766-8_2

Cited by 9 publications

(5 citation statements)

References 43 publications

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“…Prader-Willi (Butler, 2011) and Bardet-Biedl (Forsythe and Beales, 2013) are two examples of syndromic obesity associated with hypogonadism. These syndromes are also associated with mental retardation, dysmorphic features and organ-specific abnormalities (Huvenne and Dubern, 2014). In 1997, a prohormone convertase 1 gene frameshift mutation, responsible for the creation of a premature stop codon causing a defective prohormone processing, was described as the first human single genetic defect that leading to severe obesity without developmental delay in rodents and humans (Jackson et al, 1997).…”

Section: Inborn Defects Of Metabolismmentioning

confidence: 99%

Lifestyle, metabolic disorders and male hypogonadism – A one-way ticket?

Crisóstomo

Pereira

Monteiro

et al. 2020

Molecular and Cellular Endocrinology

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Section: Inborn Defects Of Metabolismmentioning

confidence: 99%

Lifestyle, metabolic disorders and male hypogonadism – A one-way ticket?

Crisóstomo

Pereira

Monteiro

et al. 2020

Molecular and Cellular Endocrinology

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“…Monogenic forms of obesity are rare and are usually characterized by early-onset obesity associated with endocrine disorders, mainly due to mutations in genes of the leptin/melanocortin axis involved in food intake regulation [ 7 ]. Mutations in several genes implicated in the leptin–melanocortin pathway have been shown to lead to autosomal recessive forms of obesity such as leptin ( LEP ), leptin receptor ( LEPR ), melanocortin 4 receptor ( MC4R ), pro-opiomelanocortin ( POMC ), prohormone convertase subtilisin/kexin type 1 ( PCSK1 ), single-minded 1 ( SIM1 ), neurotrophic tyrosine kinase receptor type 2 ( NTRK2 ), dedicator of cytokinesis 5 ( DOCK5 ), kinase suppressor of Ras2 ( KSR2 ), or tubby-like protein ( TUB ) [ 7 ]. Leptin deficiency was the first cause of monogenic obesity to be demonstrated in a human patient [ 8 ].…”

Section: Genetic Disorders Related To Hyperphagia and Obesitymentioning

confidence: 99%

Hyperphagia and Obesity in Prader–Willi Syndrome: PCSK1 Deficiency and Beyond?

Ramos‐Molina

Molina-Vega

Fernández‐García

et al. 2018

Genes

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Prader–Willi syndrome (PWS) is a complex genetic disorder that, besides cognitive impairments, is characterized by hyperphagia, obesity, hypogonadism, and growth impairment. Proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency, a rare recessive congenital disorder, partially overlaps phenotypically with PWS, but both genetic disorders show clear dissimilarities as well. The recent observation that PCSK1 is downregulated in a model of human PWS suggests that overlapping pathways are affected. In this review we will not only discuss the mechanisms by which PWS and PCSK1 deficiency could lead to hyperphagia but also the therapeutic interventions to treat obesity in both genetic disorders.

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“…'obesogenic lifestyle' increases the risk for cumulative effect from these genes. Obesogenic lifestyle factors includes overfeeding, Sedentariness and stress [8].…”

Section: Figure -2 Chromosome Location: Leptin Genementioning

confidence: 99%

Genetic basis of obesity: a review

Ghosh

Sathain

et al. 2018

J. Biomed. Sci.

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Obesity is a state of “positive” energy balance when energy intake in is much greater than energy expenditure. The familial aggregation of body size was first published by Sir Francis Galton in 1889, which become a well-established risk factor for childhood obesity. Obesity is often allied with insulin resistance, dyslipidemia and cardiovascular disease. Monogenic obesity includes the involvements of Leptin (LEP) gene, leptin receptor(LEPR), Proopiomelanocortin (POMC), Melanocortin-4 receptor (MC4R), single-minded gene 1 (SIM 1), Proprotein convertase subtilisin/ kexin type 1 (PCSK1), Neuropeptide Y (NPY). Polygenic obesity is due to Adrenoceptor beta 1 (ADRB1), ADRB2, ADRB3, Uncoupling protein 1(UCP1), UCP2, UCP3. Monogenic and polygenic obesity; pleiotropic syndromes, chromosomal rearrangement are different types of obesity with genetic cause. Surprisingly all “obesity genes” carriers do not become overweight, and exercise, maintaining healthy routine is a significant contributing factor to nullify genetic prediposition.Journal of Biomedical Sciences, Vol. 3, No.2, 2016, Page: 24-28

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Monogenic Forms of Obesity

Cited by 9 publications

References 43 publications

Lifestyle, metabolic disorders and male hypogonadism – A one-way ticket?

Lifestyle, metabolic disorders and male hypogonadism – A one-way ticket?

Hyperphagia and Obesity in Prader–Willi Syndrome: PCSK1 Deficiency and Beyond?

Genetic basis of obesity: a review

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