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Inflammatory and oxidative stress biomarkers in alkaptonuria: data from the DevelopAKUre project
D Braconi1, D Giustarini2, B Marzocchi3
1Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Siena, Italy.
Osteoarthritis and Cartilage
|June 1, 2018
Summary
In alkaptonuria (AKU), elevated Serum Amyloid A (SAA) and chitotriosidase activity indicate increased inflammation and oxidative stress. These markers correlate with a reduced quality of life in AKU patients.
Area of Science:
- Biochemistry
- Clinical Medicine
- Genetics
Background:
- Alkaptonuria (AKU) is a rare inherited metabolic disorder.
- AKU is characterized by the accumulation of homogentisic acid, leading to ochronosis and multi-organ damage.
- Inflammation and oxidative stress are implicated in AKU pathogenesis but require further investigation.
Purpose of the Study:
- To assess baseline serum levels of inflammation and oxidative stress biomarkers in AKU patients.
- To explore the relationship between these biomarkers and patients' quality of life.
Main Methods:
- Serum samples from AKU patients in SONIA1 and SONIA2 trials were analyzed.
- Biomarkers including Serum Amyloid A (SAA), chitotriosidase, and Protein Thiolation Index (PTI) were measured.
- Quality of life was assessed using validated questionnaires.
Main Results:
- Significantly elevated SAA levels were observed in a majority of AKU patients.
- Increased chitotriosidase activity was found in half of the samples.
- Higher SAA, chitotriosidase activity, and PTI correlated with a decreased quality of life.
Conclusions:
- SAA, chitotriosidase activity, and PTI may serve as potential disease activity markers in AKU.
- Monitoring SAA could be valuable for assessing inflammation in AKU.
- Increased inflammation and oxidative stress appear to parallel disease worsening in AKU.
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