TRAP5b and RANKL/OPG Predict Bone Pathology in Patients with Gaucher Disease

Area of Science:

• Biochemistry
• Bone Metabolism
• Genetic Disorders

Background:

• Gaucher disease (GD) frequently involves bone complications, including structural changes, pain, and abnormal bone density.
• Osteoporosis in GD is often asymptomatic until a fracture occurs, highlighting the need for early detection.
• Identifying high-risk patients is crucial to prevent irreversible bone damage in Gaucher disease.

Purpose of the Study:

• To identify predictive markers for bone density abnormalities in Gaucher disease patients.
• To correlate serum levels of specific biomarkers with osteopenia and osteoporosis in GD.
• To assess the role of TRAP5b, RANKL, OPG, and RANK in Gaucher disease bone complications.

Main Methods:

• Prospective assessment of 33 Gaucher disease patients categorized into three bone mineral density (BMD) cohorts.
• Quantification of serum TRAP5b, RANKL, OPG, and RANK levels using enzyme-linked immunosorbent assays.
• Correlation analysis between biomarker levels and GD biomarkers (lyso-Gb1, CCL18, chitotriosidase).

Main Results:

• Elevated TRAP5b levels were observed in GD patients, positively correlating with GD biomarkers.
• The highest TRAP5b levels were found in patients with osteoporosis.
• Increased RANKL and RANKL/OPG ratio correlated with osteopenia in Gaucher disease.

Conclusions:

• Elevated TRAP5b, RANKL, and RANKL/OPG ratios suggest osteoclast activation in Gaucher disease.
• TRAP5b shows potential as a biomarker for predicting bone density progression in GD.
• These findings support early diagnosis and intervention for bone complications in Gaucher disease.