SMIM1 absence is associated with reduced energy expenditure and excess weight.

ABSTRACT:

Background

Obesity rates have nearly tripled in the past 50 years, and by 2030 more than 1 billion individuals worldwide are projected to be obese. This creates a significant economic strain due to the associated non-communicable diseases. The root cause is an energy expenditure imbalance, owing to an interplay of lifestyle, environmental, and genetic factors. Obesity has a polygenic genetic architecture; however, single genetic variants with large effect size are etiological in a minority of cases. These variants allowed the discovery of novel genes and biology relevant to weight regulation and ultimately led to the development of novel specific treatments.

Methods

We used a case-control approach to determine metabolic differences between individuals homozygous for a loss-o

SUBMITTER: Stefanucci L 

PROVIDER: S-EPMC7617389 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature