ArticleMolecular genetics & genomic medicine2024
Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway.
Article in Molecular genetics & genomic medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Osteomesopyknosis: A Bone-Sclerosing Disorder that May be Confused with Bone Metastases.Calcified tissue international · 2025Review
- Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway.Molecular genetics & genomic medicine · 2024Article
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11 authors.
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Abstract
backgroundBone tissue homeostasis relies on the coordinated activity of the bone-forming osteoblasts and bone-resorbing osteoclasts. Osteomesopyknosis is considered a distinctive rare sclerosing skeletal disorder of unelucidated pathophysiology and presumably autosomal dominant transmission. However, the causal genes are unknown.
methodsWe present a case report encompassing clinical assessments, imaging studies, and whole-exome sequencing analysis, complemented by functional in vitro experiments.
resultsThis new case of osteomesopyknosis was associated with a missense ALOX5 variant predicted to induce protein misfolding and proteasomal degradation. Transfection experiments demonstrated that the variant was associated with reduced protein levels restored by proteasomal inhibition with bortezomib. Likewise, gene expression analysis showed that the mutated gene was associated with a decreased RANKL/OPG ratio, which is a critical driver of osteoclast precursor differentiation.
conclusionOur data indicate impaired bone resorption as the underlying mechanism of this rare osteosclerosis, implicating ALOX5 pathogenic variants as potential etiological factors.
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