Leptin Synthesis

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Leptin can be defined as a peptide hormone in charge of sending signals to the brain concerning the quantity of fat the body stores and secretes by adipose tissue (Strosberg and Issad 1999). Leptin inhibits food consumption and stimulates energy through the interactions with receptors located in the hypothalumus (Strosberg and Issad 1999). Evidence shows that leptin (otherwise known as the OB protein) and leptin receptors play a big part in the regulation of body weight. (Coll et al. 2007) The topics that will be discussed pertaining to leptin and the mutations of the gene include the experiments conducted to discover leptin and its role in obesity, as well as the comparison between the leptin receptor mutation and its effects on …show more content…
(Coll et al. 2007) OB mice were found to possess a loss-of-function mutation in the gene in coding the secretion of which is now known as leptin. (Coll et al. 2007) First reports of mutations were found in leptin genes of obese patients that contained noticeably low leptin amounts in their serum. (Strosberg and Issad 1999) Sequencing of the patients genes lead to the discovery that a deletion had taken place causing a premature stop codon that created a synthesized truncated protein. (Strosberg and Issad 1999)This resulted in a substitution of a completely different amino acid and since the patients were homozygous for the mutation, and heterozygous individuals have normal leptin levels and are not obese, it was concluded that the lack of Leptin in serum is in fact connected with obesity. (Strosberg and Issad 1999) In contrast to leptin, leptin receptor (Lepr) is found in a variety of forms ensuing alternate splicing at two different …show more content…
The effects of Leptin receptor mutations are remarkably similar when performing a cross species comparison between humans and rodents that are found to have the this mutation (Israel and Chua 2010). Mice discovered to possess this mutation have suffered from health concerns detrimental to their survival. Infertility, hypothermia and metabolic abnormalities are just some of the effects that were studied. (Strosberg and Issad 1999) Hyperphagia is a is an outcome that is seen in all cases of Leptin receptor deficiency. This frequent surplus of caloric intake subsequently contributes to greater mass accumulation. Another common effect seen in rodents and humans is abnormal or delayed puberty. However, even though the rate at which fat produces Leptin affects the subject's body weight, it is not the only factor. (Campfield et al. 1996) Above mentioned are just a few of the differences and similarities between the effect of the mutation between humans and
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