Abstract
Rare genetic obesity disorders are characterized by mutations of genes strongly involved in the central or peripheral regulation of energy balance. These mutations are effective in causing the early onset of severe obesity and insatiable hunger (hyperphagia), suggesting that the genetic component can contribute to 40–70% of obesity. However, genes’ roles in the processes leading to obesity are still unclear. This review is aimed to summarize the current knowledge of the genetic causes of obesity, especially monogenic obesity, describing the role of epigenetic mechanisms in obesity and metabolic diseases. A comprehensive understanding of the underlying genetic and epigenetic mechanisms, with the metabolic processes they control, will permit adequate management and prevention of obesity.
Highlights
Obesity, a complex and multifactorial disease associated with excessive adiposity or body fat, currently affects over a third of the world’s population [1,2]
Through the study of genes strongly involved in the central or peripheral regulation of energy balance, including variants in leptin (LEP), leptin receptor (LEPR), proopiomelanocortin (POMC), neuropeptide Y (NPY), melanocortin receptor (MC4R), and the gene associated with fat mass and obesity (FTO), suggests a genetic component, contributing to 40–70% of obesity
This review is aimed to summarize the current knowledge of the genetic causes of obesity, especially monogenic obesity, with the purpose to describe the role of epigenetic mechanisms in obesity and metabolic diseases
Summary
A complex and multifactorial disease associated with excessive adiposity or body fat, currently affects over a third of the world’s population [1,2]. Obesity is a consequence of an energy imbalance between caloric intake and energy expenditure, leading to a positive energy balance with a consequent increase in body weight [6,7]. Factors both hereditary or genetic, family history, socioeconomic and sociocultural conditions are considered risk factors for obesity [1]. Obesity induced by genetic factors can be classified into monogenic, caused by a single genetic mutation, syndromic, associated with other phenotypes, such as abnormalities of neurological development or organs/systems malformations, and polygenic caused by the mutation of a large number of genes [10,12] (Table 1). LEPR (leptin receptor), POMC (proopiomelanocortin), PC (prohormone convertase), MC4R (melanocortin receptor), SIM 1 (SIM BHLH Transcription Factor 1), BDNF (brain-derived neurotrophic factor), TRKB receptor (tropomyosin-related kinase B), FTO (fat mass and obesity), and INSIG2 (insulin-induced gene 2)
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