2024-04-04 12:02:30
Rare mutant gene ‘Bassoon’ has the greatest impact on obesity… Unlike other mutations, it only applies to adults.
Entered 2024.04.04 21:01 Entered 2024.04.04 21:01 Modified 2024.04.04 21:45 Views 40
Obesity is largely influenced by genetics. It is known that if a parent is obese, there is a 70-80% chance that the child will become obese. The worst obesity gene mutation that increases the risk of obesity by six times has been discovered. This genetic mutation, so-called ‘nasal’, uniquely only affects adults. [사진= 게티이미지뱅크]The worst genetic mutation that increases the risk of obesity by up to six times has been discovered. A joint research team including the Institute of Metabolic Sciences at the University of Cambridge in the UK announced that they had newly discovered the ‘BSN gene (aka ‘bassoon’), which has the greatest impact on obesity among the obesity-causing gene mutations discovered so far. This mutated gene, along with ‘APBA1’, is a rare mutated gene whose risk of becoming obese cannot be determined until adulthood.
The results of this study (Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease) were published in the international journal Nature Genetics.
Previous studies have shown that several obesity-related genetic mutations act through a specific pathway in the brain (the leptin-melanocortin pathway) that plays an important role in appetite regulation. This genetic mutation has a significant impact on obesity starting in childhood. However, although BSN and APBA1 both encode proteins found in the brain, they are not involved in specific pathways. It is not related to childhood obesity.
According to the research team, the bassoon gene mutation affects 1 in 6,500 adults. If this rate is applied to Korea, it is estimated that regarding 6,830 out of regarding 44.38 million adults aged 18 or older (as of the end of 2023) will have this genetic mutation.
The research team performed Whole Exome Sequencing (WES) on the body mass index (BMI) of more than 500,000 people using the UK Biobank and other data. As a result, they found that genetic variation in the BSN gene, also known as ‘Bassoon’, can increase the risk of obesity by up to six times. This genetic mutation was found to increase the risk of non-alcoholic fatty liver disease and type 2 diabetes.
“The results of this study correspond to a new biological mechanism of obesity,” said Professor John Perry, a researcher at the UK Medical Research Council and the first author of the study. The genetic mutation identified by BSN this time has the greatest impact on obesity, type 2 diabetes, and fatty liver disease. Professor Perry said, “BSN and APBA1 play an important role in signal transmission between brain cells. “Age-related neurodegeneration may affect appetite regulation,” he added.
The research team also used genetic data from people in Pakistan and Mexico to reproduce the results found in the previous cohort (same group). Pharmaceutical company AstraZeneca helped here. The research team said they hope that through further research, the results will be of great help in treating obesity.
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