Discovery Shows Phenylketonuria Alters
Energy Expenditure by Activating «Brown Fat»
At Biostatech S.L., we remain at the forefront of cutting-edge science, providing analytical solutions to research projects that open new frontiers in metabolic medicine. We are thrilled to announce our collaboration in a study recently published in the prestigious journal MedComm (Wiley), titled: «Increased Brown Adipose Tissue Thermogenesis in Phenylketonuria».
The study, led by Miguel López Pérez (CiMUS, University of Santiago de Compostela), delves into the alterations associated with phenylketonuria (PKU), a rare metabolic disease characterized by the inability to process the amino acid phenylalanine (Phe).
The Core of the Research
Although PKU has traditionally been linked to neurological issues and thermal regulation imbalances, the role of brown adipose tissue (BAT)—the «good fat» responsible for burning calories to generate heat—remained a mystery.
Using non-invasive infrared thermography and blood tests, the study evaluated the activity of this fat tissue. The results revealed that, despite maintaining normal body temperature (normothermia), PKU patients exhibit a significantly higher temperature in brown fat compared to control subjects.
📊 The Key Biological Discovery:
- A metabolic switch: Statistical analyses helped confirm that this thermal increase is directly related to levels of the hormone FGF21 and thyroid hormones.
- Unprecedented mechanism: At the molecular level, excess phenylalanine acts as a switch that triggers the release of FGF21. This hormone travels to the brain, inhibits the regulatory protein AMPK in the hypothalamus, and sends a direct signal to turn on thermogenesis in brown fat—a mechanism described here for the first time in the context of PKU.
Our Statistical Contribution
Analyzing data from thermal imaging tools combined with hormonal biomarkers requires meticulous methodological control to avoid biases caused by biological factors.
At Biostatech S.L., our scientific director María P. Pata (joint lead author of the study alongside Noemí López-Rey and Alba Cabaleiro) took full charge of the project’s strategy and statistical analysis, developing regression models and clinical correlations that allowed these findings to be validated with complete robustness and reliability.
We would like to congratulate Miguel López, and also thank the rest of the authors, especially Rubén Nogueiras, for their contribution to this magnificent study that helps us better understand energy balance in rare metabolic diseases.
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