Title |
What the Genetics of Lipodystrophy Can Teach Us About Insulin Resistance and Diabetes
|
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Published in |
Current Diabetes Reports, September 2013
|
DOI | 10.1007/s11892-013-0431-7 |
Pubmed ID | |
Authors |
Camille Vatier, Guillaume Bidault, Nolwenn Briand, Anne-Claire Guénantin, Laurence Teyssières, Olivier Lascols, Jacqueline Capeau, Corinne Vigouroux |
Abstract |
Genetic lipodystrophic syndromes are rare diseases characterized by generalized or partial fat atrophy (lipoatrophy) associated with severe metabolic complications such as insulin resistance (IR), diabetes, dyslipidemia, nonalcoholic fatty liver disease, and ovarian hyperandrogenism. During the last 15 years, mutations in several genes have been shown to be responsible for monogenic forms of lipodystrophic syndromes, of autosomal dominant or recessive transmission. Although the molecular basis of lipodystrophies is heterogeneous, most mutated genes lead to impaired adipogenesis, adipocyte lipid storage, and/or formation or maintenance of the adipocyte lipid droplet (LD), showing that primary alterations of adipose tissue (AT) can result in severe systemic metabolic and endocrine consequences. The reduced expandability of AT alters its ability to buffer excess caloric intake, leading to ectopic lipid storage that impairs insulin signaling and other cellular functions ("lipotoxicity"). Genetic studies have also pointed out the close relationships between ageing, inflammatory processes, lipodystrophy, and IR. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 40 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 8 | 20% |
Student > Ph. D. Student | 7 | 18% |
Student > Bachelor | 5 | 13% |
Student > Doctoral Student | 3 | 8% |
Other | 3 | 8% |
Other | 9 | 23% |
Unknown | 5 | 13% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 17 | 43% |
Agricultural and Biological Sciences | 6 | 15% |
Biochemistry, Genetics and Molecular Biology | 5 | 13% |
Pharmacology, Toxicology and Pharmaceutical Science | 2 | 5% |
Engineering | 2 | 5% |
Other | 3 | 8% |
Unknown | 5 | 13% |