Research
Energy balance
PTEN haploinsufficiency leads to increased adiposity and obesity without corresponding changes in lean body mass or fat distribution patterns compared to matched controls.
Individuals with PTEN mutations tend to have higher body fat percentages due to genetic factors, not just lifestyle. This suggests that standard weight-loss advice may need to account for genetic predispositions to adiposity.
GoodSupportsHIGH confidence
The patients’ insulin sensitivity could be explained by the presence of enhanced insulin signaling through the PI3K-AKT pathway... The PTEN mutation carriers were obese as compared with population-based controls (mean body-mass index... 32... vs. 26...; P<0.001). This increased body mass in the patients was due to augmented adiposity without corresponding changes in fat distribution.
Why this rating
Large control cohort (n=2097) and rigorous matching, though small patient group (n=15).
Source
<i>PTEN</i> Mutations as a Cause of Constitutive Insulin Sensitivity and Obesity
Aparna Pal et al. · New England Journal of Medicine · 2012
DOI 10.1056/nejmoa1113966
cohort · n=2112Cited 232×
Read the paper DOI resolved against Crossref · corpus check 2026-06-10
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