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Obesity is a worldwide epidemic and a significant burden for health. Even if most of the cases are labelled as “idiopathic” and due to excessive caloric intake, genetic or syndromic obesity has been an interesting field of research over the last two decades. A large amount of genes have been recognized as a ...

Obesity is a worldwide epidemic and a significant burden for health. Even if most of the cases are labelled as “idiopathic” and due to excessive caloric intake, genetic or syndromic obesity has been an interesting field of research over the last two decades. A large amount of genes have been recognized as a genetic cause of obesity, but also a wide number of syndromes leading to obesity are described.

Monogenic obesity is a severe early-onset and rare form of obesity featuring endocrine disorders. Genetic background plays a major role, while environmental factors play a role but to a lesser extent. The most frequent causes of this form of obesity are mutations in the genes of the leptin/melanocortin axis involved in food intake regulation, such as leptin, leptin receptor, proopiomelanocortin, proconvertase 1, or specific genes linked to these pathways. Syndromic obesity is a severe obesity, associated with additional features (intellectual disability, organ-specific disease). Prader-Willi and Bardet-Biedl syndromes are the most frequent syndromes leading to obesity, but a wide range of other syndromes are described (for instance Alström Syndrome). Oligogenic obesity is associated with a variable degree of obesity and it is partly due to environmental factors without any specific phenotype. Mutations in the melanocortin 4 receptor gene are the most frequent cause.

Differences in the mechanisms leading to cardiovascular and metabolic consequences have been described between genetic and idiopathic obesity, suggesting possible targets for new therapeutic approaches.

This Research Topic aims to collect papers on clinical and molecular studies in people with genetic forms of obesity.

Keywords: Prader-Willi syndrome, Bardet-Biedl syndrome, Alstrom syndrome, POMC gene, leptin, obesity, genetic obesity, syndrome obesity


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