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Article

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

Lysosomal & Rare Disorders Research and Treatment Center, Fairfax, VA 22030, USA
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Authors to whom correspondence should be addressed.
Academic Editor: Heinrich Resch
J. Clin. Med. 2021, 10(10), 2217; https://doi.org/10.3390/jcm10102217
Received: 15 April 2021 / Revised: 13 May 2021 / Accepted: 19 May 2021 / Published: 20 May 2021
(This article belongs to the Special Issue Osteoporosis and Related Bone Metabolic Disease)
Background and objective: Bone involvement occurs in 75% of patients with Gaucher disease (GD), and comprises structural changes, debilitating pain, and bone density abnormalities. Osteoporosis is a silent manifestation of GD until a pathologic fracture occurs. Thus, early diagnosis is crucial for identifying high-risk patients in order to prevent irreversible complications. Methods: Thirty-three patients with GD were assessed prospectively to identify predictive markers associated with bone density abnormalities, osteopenia (OSN), and osteoporosis (OSR). Subjects were categorized into three cohorts based on T- or Z-scores of bone mineral density (BMD). The first GD cohort consisted of those with no bone complications (Z-score ≥ −0.9; T-scores ≥ −1), the second was the OSN group (−1.8 ≥ Z-score ≥ −1; −2.5 ≥ T-score ≥ −1), and the third was the OSR group (Z-score ≤ −1.9; T-scores ≤ −2.5). Serum levels of TRAP5b, RANKL, OPG, and RANK were quantified by enzyme-linked immunosorbent assays. Results: TRAP5b levels were increased in GD patients, and showed a positive correlation with GD biomarkers, including plasma glucosylsphingosine (lyso-Gb1) and macrophage activation markers CCL18 and chitotriosidase. The highest level of TRAP5b was measured in patients with osteoporosis. The elevation of RANKL and RANKL/OPG ratio correlated with osteopenia in GD. Conclusion: TRAP5b, RANKL, and RANKL/OPG elevation indicate osteoclast activation in GD. TRAP5b is a potential bone biomarker for GD with the ability to predict the progression of bone density abnormalities. View Full-Text
Keywords: Gaucher disease; osteoporosis; TRAP5b; OPG; RANKL; biomarker; lyso-Gb1; bone Gaucher disease; osteoporosis; TRAP5b; OPG; RANKL; biomarker; lyso-Gb1; bone
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MDPI and ACS Style

Ivanova, M.; Dao, J.; Noll, L.; Fikry, J.; Goker-Alpan, O. TRAP5b and RANKL/OPG Predict Bone Pathology in Patients with Gaucher Disease. J. Clin. Med. 2021, 10, 2217. https://doi.org/10.3390/jcm10102217

AMA Style

Ivanova M, Dao J, Noll L, Fikry J, Goker-Alpan O. TRAP5b and RANKL/OPG Predict Bone Pathology in Patients with Gaucher Disease. Journal of Clinical Medicine. 2021; 10(10):2217. https://doi.org/10.3390/jcm10102217

Chicago/Turabian Style

Ivanova, Margarita, Julia Dao, Lauren Noll, Jacqueline Fikry, and Ozlem Goker-Alpan. 2021. "TRAP5b and RANKL/OPG Predict Bone Pathology in Patients with Gaucher Disease" Journal of Clinical Medicine 10, no. 10: 2217. https://doi.org/10.3390/jcm10102217

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