New Study Links This Gene Absence to Increased Obesity Risk


Almost two-thirds of adults in the United States are overweight or obese [1]. While diet and exercise undeniably play a crucial role, the underlying causes of weight gain are often complex, involving environmental and genetic factors. 

A breakthrough study published in Med, a Cell Press journal, provides significant insights into the genetic basis of obesity

Researchers have pinpointed a specific gene variant that substantially elevates obesity risk—the absence of a functioning SMIM1 gene. 

Individuals with two copies of this variant, identified as SMIM1-/-, not only lack this gene but also exhibit a marked increase in body weight: an average of 4.6 kg (10.1 lbs) for females and 2.4 kg (5.3 lbs) for males compared to those with a working SMIM1 gene [2]. 

This discovery underscores the profound impact of genetics on metabolic health and opens new avenues for targeted interventions.

The absence of SMIM1, a gene previously known only for its association with the Vel-negative blood group, now emerges as a critical player in metabolic health

Research reveals that individuals without this gene, referred to as SMIM1-/-, are heavier and display metabolic symptoms that mirror those of metabolic syndrome, such as dyslipidemia and altered levels of liver enzymes and thyroid hormones [2]. 

This suggests a profound impact of this genetic variant on energy balance and fat metabolism.

The findings are significant: SMIM1-/- individuals exhibit a consistent pattern of reduced resting energy expenditure, contributing directly to weight gain [2]. 

This lower metabolic rate and changes in thyroid hormone levels paint a complex picture of how a single genetic alteration can influence multiple metabolic pathways.

Therapeutic potential and future directions

Identifying the SMIM1 variant enhances our genetic toolkit for predicting obesity risk and points to potential therapeutic targets. 

For instance, the role of SMIM1 in thyroid hormone activity suggests that thyroid hormone analogs or metabolic rate enhancers could benefit those with this genetic predisposition [2]. 

The need for further research is clear. This research aims to validate these findings and explore therapeutic interventions that could mitigate the risks associated with this genetic trait.

The study of SMIM1’s role in obesity underscores the importance of genetic research in unraveling the complex etiology of metabolic diseases. 

It opens up promising pathways for personalized medicine, where genetic screening can lead to targeted therapies that address specific metabolic dysfunctions. 

As we move forward, integrating genetic insights into clinical practice could revolutionize our approach to preventing and managing obesity.

[1] https://www.hsph.harvard.edu/obesity-prevention-source/obesity-rates-worldwide/
[2] https://www.cell.com/med/fulltext/S2666-6340(24)00219-8

Photograph: seventyfourimages/Envato



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