Early Energy Deficit in Huntington Disease: Identification of a Plasma Biomarker
Author Information
Author(s): Mochel Fanny, Charles Perrine, Seguin François, Barritault Julie, Coussieu Christiane, Perin Laurence, Le Bouc Yves, Gervais Christiane, Carcelain Guislaine, Vassault Anne, Feingold Josué, Rabier Daniel, Durr Alexandra
Primary Institution: INSERM, Hôpital de la Salpêtrière, UMR 679, Paris, France
Hypothesis
Is there a systemic metabolic defect associated with early weight loss in Huntington disease?
Conclusion
The study identifies low levels of branched chain amino acids as a potential biomarker for early Huntington disease progression.
Supporting Evidence
- Weight loss was observed in the HD group even in presymptomatic carriers.
- BCAA levels were correlated with weight loss and disease progression.
- Inflammatory processes and primary hormonal dysfunction were excluded as causes of weight loss.
- Caloric intake was higher in presymptomatic carriers compared to controls.
Takeaway
People with Huntington disease lose weight even when they eat enough food, and this study found that certain amino acids in their blood are lower, which might help doctors track the disease.
Methodology
The study involved a multiparametric investigation of body weight and plasma components in HD patients and presymptomatic carriers compared to controls, using 1H NMR spectroscopy.
Potential Biases
Potential biases related to dietary intake and sample collection timing.
Limitations
The study did not evaluate changes in body weight prospectively and relied on retrospective data.
Participant Demographics
32 HD patients (19 women, 13 men, mean age 42) and 21 controls (13 women, 8 men, mean age 37).
Statistical Information
P-Value
p<0.001
Statistical Significance
p<0.001
Digital Object Identifier (DOI)
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