Generalized Lipodystrophy

“…Although the mechanisms underlying this leptin-mediated improvement in insulin sensitivity remain to be determined, it is likely that the steatosis associated with lipodystrophy could be ameliorated by leptin. This makes it as a prime candidate for the treatment of lipodystrophies such as in the Berardinelli-Seip syndrome (Berardinelli, 1954;Seip and Trygstad, 1963;Savage and O'Rahilly, 2002).…”

Section: Glucose Homeostasis and Insulin Sensitivitymentioning

confidence: 99%

The Use of Animal Models to Dissect the Biology of Leptin

Chehab

Qiu²,

Ogus³

2004

Recent Progress in Hormone Research

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Our understanding of the effects of leptin have stemmed mainly from animal studies, which continue to leave important clues of its roles in physiology, metabolism, neuroscience, and cell signaling. Since its discovery, leptin has been linked to various pathways, either directly at its primary site of action in the hypothalamus, or indirectly via downstream effector pathways such as in adipocytes and muscle. Leptin's importance is exemplified by the lack of redundant backup mechanisms, since leptin-deficient mice are obese, diabetic, and sterile. Investigations uncovering the pleiotropic actions of leptin were unfolded mainly from rodent models. Thus, this chapter focuses on these studies and, more specifically, on those findings recently brought forward by transgenic mice overexpressing leptin. The vast amount of biology that has been ascribed to leptin encompasses effects on food intake, insulin sensitivity, adiposity, thermogenesis, reproduction, immunity, and bone regulation. Mechanisms underlying leptin's action revolve essentially around neural pathways but also encompass to a lesser extent peripheral mechanisms. The roles of leptin along these axes are reviewed, with particular emphasis on pathways and phenotypes generated by transgenic hyperleptinemia. An evolutionary significance of hyperleptinemia in association with development of leptin resistance is suggested as a protective armament against some of the detrimental effects caused by hyperleptinemia in transgenic mice overexpressing leptin.

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“…Berardinelli-Seip syndrome (BSS) is a rare disorder of carbohydrate and lipid metabolism [1] and is characterized by a variable loss of adipose tissue, insulin resistance and various complications such as glucose intolerance or diabetes mellitus (DM), hyperinsulinemia, dyslipidemia, especially hypertriglyceridemia, and other clinical manifestations [2]. BSS is a genetic disorder with recessive autosomal transmission [3].…”

Section: Introductionmentioning

confidence: 99%

Association between Pro12Ala, Pvull, Avall, Sstl and ADIPOQ Single-Nucleotide Polymorphisms with Lipid and Glycemic Profiles of Patients with Berardinelli-Seip Syndrome

Baracho¹,

Nunes²,

Hirata³

et al. 2014

Ann Nutr Metab

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Background/Aims: Berardinelli-Seip syndrome (BSS) is a recessive autosomal genetic disorder characterized by the near loss of adipose tissue with disturbance in lipid metabolism. Methods: Biochemical and hormonal parameters and Pro12Ala, Pvull, Avall, Sstl and ADIPOQ polymorphisms in 22 patients with BSS were analyzed and examined for a possible association with lipid profiles. Results: Parental consanguinity, insulin resistance and diabetes mellitus were observed in 63.6, 81.8 and 59.1% of patients, respectively. All individuals presented high triglyceride levels, and 68.1% of patients showed high cholesterol levels. The Pro/Pro genotype of the Pro12Ala polymorphism of the PPARγ2 gene was found in 86.3% of patients; the Ala/Ala variant was not observed in any patient. The PvuII polymorphism of the LPL gene showed a frequency of 50% for the P1P2 variant. The AvaII polymorphism of the LDLR gene showed a similar frequency of 40.9% for both CT and TT variants. The S1S1 genotype of the Sstl polymorphism of the APOC3 gene had a frequency of 86.3%. The CC allele of the ADIPOQ polymorphism of the adiponectin gene was found in 54.6% of patients. Conclusions: No association was found between lipid parameters and the relevant Pvull, Avall and Sstl polymorphisms. However, we did observe an association of the Pro12Ala and ADIPOQ polymorphisms with higher lipid levels, suggesting a close relationship between these factors.

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Generalized Lipodystrophy

Cited by 175 publications

References 9 publications

Berardinelli Lipodystrophy: (Generalized Lipodystrophy) Syndrome: A Case Report and Review of the Literature

Berardinelli Lipodystrophy: (Generalized Lipodystrophy) Syndrome: A Case Report and Review of the Literature

The Use of Animal Models to Dissect the Biology of Leptin

Association between Pro12Ala, Pvull, Avall, Sstl and ADIPOQ Single-Nucleotide Polymorphisms with Lipid and Glycemic Profiles of Patients with Berardinelli-Seip Syndrome

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