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Researchers find new mutation in the leptin gene



 Researchers find new mutation in the leptin gene
Leptin, the 'satiety hormone' made by adipose cells that helps to regulate energy balance by inhibiting hunger. Opposed by the actions of the hormone ghrelin, the 'hunger hormone.' Credit: Texas Biomed
            

The global obesity epidemic is so far-reaching it now has an overarching name: globesity. Texas Biomed Staff Scientist Raul Bastarrachea, M.D., is a new mutation in the gene that regulates hormone suppressing hunger called leptin. This new mutation could help researchers understand why people develop excess body fat. Dr. Bastarrachea's research is aimed at helping tackle metabolic disorders like cardiovascular disease and diabetes which are fueled by obesity and impact millions of people around the world.
                                                

"We keep learning more and more about the role of fat in normal-weight people," Bastarrachea said.

In the field of metabolic diseases, the pinpointing of the protein leptin in the year 2000 was a huge breakthrough. Researchers at Rockefeller University found this hormone was missing in rats. Humans so need adequate leptin circulating levels to inform the brain that their body fat content is enough and they do not need to keep eating more food. In other words, leptin signals mammals to stop eating.

Leptin is a protein produced by fat cells (also known as adipose tissue). Where the hormone hooks up to a leptin receptor in the hypothalamus to signal to the body that there is fat and no more food is needed. In other words, it is a hunger-suppressing hormone. The name leptin is derived from the Greek work "leptos" meaning thin. It is sometimes referred to as the "fat controller."

A congenital leptin deficiency is a recessive genetic disorder associated with severe early-onset obesity. In an article in the journal Genes Dr. Bastarrachea and his co-investigators examined the case of two sisters in Colombia who started off their lives as normal weight babies but who suffered from childhood-onset severe obesity. Prior cases have been studied with their genetics can be traced to Pakistan, Turkey, Egypt, India and China. This is the first case studied in the Americas.

What genes have been found in their 20s-has a mutation in the leptin genes on chromosomes 7. The sisters' leptin levels were so low they were below the

The genetic mutation caused the leptin proteins to be "misfolded," rendering them ineffective and destroying their function.

When researching the genetics of the family, lineal consanguinity. This is a common practice in about a fifth of the world's population, mostly in the Middle East, West Asia and North Africa.

Metreleptin

Leptin deficiencies on a large scale, the two Colombian women are in the queue to take Metreleptin a synthetic analogue of leptin-a very expensive injected drug.

With a global problem, scientists are now looking for ways to keep the issue under control. Texas Biomed is playing an important role.
                                                                                                                        


Study reveals biology of leptin, the hunger hormone


More information:
Hernan Yupanqui-Lozno et al, Congenital Leptin Deficiency and Leptin Gene Missense Mutation Found in Two Colombian Sisters with Severe Obesity, Genes (201
9). DOI: 10.3390 / genes10050342

Provided by
Texas Biomedical Research Institute




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                                                 Researchers find new mutation in the leptin gene (2019, June 21)
                                                 retrieved 22 June 2019
                                                 from https://medicalxpress.com/news/2019-06-mutation-leptin-gene.html
                                            

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