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Lepton gene5/16/2023 ![]() ![]() The hormone is a synthesized as 167 amino acid protein which is immature. Leptin hormone is a member of long chain helical cytokines’ family, the other members of the family are important regulators e.g., interleukin-6, granulocyte colony-stimulating factor and growth hormone. In addition to controlling body fat, leptin also has important funtions in reproductive organs, mammary glands, immune system and bone mineral density. It controls body fat by inhibiting food intake due to targeting central nervous system. It has a distinct impact on various physiological processes including energy metabolism, endocrine and immune systems. Leptin is a protein secreted by adipocytes, the fat cells, and its concentration in blood positively correlates with body fat mass and body mass index (BMI). A landmark discovery in the field of obesity genetics was the identification of mutations in the leptin gene in grossly obese children followed by identification of mutations in other genes involved in energy regulation pathways laying down the basis for monogenic obesity. Genetic studies on obesity started as a result of the observation that family clustering occurs in obesity. Obesity is a heterogeneous disorder involving a complex interaction of multitude of including environmental, behavioural and genetic factors, none of which are completely understood. Due to recent explosion of the obesity World Health Organization (WHO) has designated obesity a global epidemic. It has become one of the leading disorders afflicting mankind worldwide. Obesity is defined as a medical condition in which excess body fat accumulation can impact health negatively. Such mutations may exert their effect by directly affecting energy regulation pathway and are more prominent in the early stages of life only. In conclusion, LEP gene mutations contribute significantly to the monogenic forms of obesity and are important due to the availability of treatment options. The prevalence of such mutations is, however, low due to the drastic effects on the energy regulation. He had very low serum leptin levels suggestive of functional impact of the mutation. Results showed that this mutation was present only in one male child with early onset obesity (10 year). A total of 475 subjects were genotyped by PCR–RFLP analysis and their serum profiling was done. We aimed to analyze the prevalence of this mutation in Pakistani subjects. To date, only eight mutations have been described in the LEP gene of which p. Any mutations in the LEP gene have an adverse effect on energy regulation pathway and lead to severe, early onset obesity. Leptin is a hormone secreted by adipocytes in response to satiety and correlates with body weight. However, there is scarce research on understanding obesity genetics in Pakistan. Obesity is a complex disorder and has been increasing globally at alarming rates including Pakistan. ![]()
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