Obesity is defined as abnormal or excessive fat accumulation that presents a risk to health, which occurs when abnormal amounts of triglycerides are stored in adipocytes and released as free fatty acids. In addition to dietary and lifestyle factors, epigenetic modifications play a role in excess fat accumulation. Obesity is correlated with an increased risk of type 2 diabetes, cardiovascular disease, cancer and mortality. The heritability of obesity and body weight, in general, is high. A small number of confirmed monogenic forms of obesity have been identified by molecular genetic studies. The identification of inborn deficiency of the mostly adipocyte-derived satiety hormone leptin in extremely obese children from consanguineous families paved the way to the first pharmacological therapy for obesity based on a molecular genetic finding. The Monogenic Obesity Panel includes syndromic conditions such as Bardet-Biedl syndrome, Cohen syndrome and Alström syndrome, where obesity is one feature in complex developmental disorders.
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