Therapeutics & Biomarker Discovery for Clinical Applications, Cell Therapy & Immunobiology Department, King Faisal Specialist Hospital & Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia.
Department of Dentistry, King Faisal Specialist Hospital & Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia.
Int J Mol Sci. 2023 Sep 8;24(18):13841. doi: 10.3390/ijms241813841.
Osteopetrosis is a rare inherited disease caused by osteoclast failure, resulting in increasing bone density in humans. Patients with osteopetrosis possess several dental and cranial complications. Since carbonic anhydrase II (CA-II) deficiency is a major cause of osteopetrosis, CA-II activators might be an attractive potential treatment option for osteopetrosis patients. We conducted comprehensive label-free quantitative proteomics analysis on Fluconazole-treated Dental Pulp Mesenchymal Stem/Stromal Cells from CA-II-Deficient Osteopetrosis Patients. We identified 251 distinct differentially expressed proteins between healthy subjects, as well as untreated and azole-treated derived cells from osteopetrosis patients. Twenty-six (26) of these proteins were closely associated with osteogenesis and osteopetrosis disease. Among them are ATP1A2, CPOX, Ap2 alpha, RAP1B and some members of the RAB protein family. Others include AnnexinA1, 5, PYGL, OSTF1 and PGAM4, all interacting with OSTM1 in the catalytic reactions of HCO3 and the Cl- channel via CAII regulation. In addition, the pro-inflammatory/osteoclast regulatory proteins RACK1, MTSE, STING1, S100A13, ECE1 and TRIM10 are involved. We have identified proteins involved in osteogenic and immune metabolic pathways, including ERK 1/2, phosphatase and ATPase, which opens the door for some CA activators to be used as an alternative drug therapy for osteopetrosis patients. These findings propose that fluconazole might be a potential treatment agent for CAII- deficient OP patients. Altogether, our findings provide a basis for further work to elucidate the clinical utility of azole, a CA activator, as a therapeutic for OP.
成骨不全症是一种由破骨细胞功能障碍引起的罕见遗传性疾病,导致人类骨密度增加。成骨不全症患者存在多种牙齿和颅面并发症。由于碳酸酐酶 II(CA-II)缺乏是成骨不全症的主要原因,CA-II 激活剂可能是成骨不全症患者有吸引力的潜在治疗选择。我们对氟康唑处理的 CA-II 缺陷型成骨不全症患者牙髓间充质干细胞进行了全面的无标签定量蛋白质组学分析。我们在健康受试者、未经处理和唑类药物处理的成骨不全症患者来源细胞之间鉴定了 251 种不同的差异表达蛋白。其中 26 种蛋白与成骨和成骨不全症密切相关。其中包括 ATP1A2、CPOX、Ap2 alpha、RAP1B 和 RAB 蛋白家族的一些成员。其他包括 AnnexinA1、5、PYGL、OSTF1 和 PGAM4,它们都通过 CAII 调节与 OSTM1 相互作用,参与 HCO3 和 Cl-通道的催化反应。此外,还涉及促炎/破骨调节蛋白 RACK1、MTSE、STING1、S100A13、ECE1 和 TRIM10。我们已经鉴定出参与成骨和免疫代谢途径的蛋白,包括 ERK 1/2、磷酸酶和 ATP 酶,这为一些 CA 激活剂作为成骨不全症患者的替代药物治疗打开了大门。这些发现表明,氟康唑可能是 CA-II 缺陷型 OP 患者的潜在治疗药物。总之,我们的研究结果为进一步阐明唑类药物(CA 激活剂)作为 OP 治疗药物的临床应用提供了依据。