Osteopetrosis: The patient point of view and medical challenges

Cohen‐Solal, Martine; Collet, Corinne; Bizot, Pascal; Pavis, Cecile; Funck‐Brentano, Thomas

doi:10.1016/j.bone.2022.116635

Cited by 4 publications

(1 citation statement)

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“…In clinic, HSCT is the only curative for autosomal recessive osteopetrosis [4], which can prevent or reverse most bone-related abnormalities, but has no obvious effect on progressive neurodegeneration [37]. Mesenchymal stem cell transplantation (MSCT) is a considerable strategy to replace the osteoblast precursor population [38].…”

Section: Discussionmentioning

confidence: 99%

CRISPR/Cas9-Mediated Gene Correction in Osteopetrosis Patient-Derived iPSCs

Li,

Ou,

Zhang

et al. 2023

Front. Biosci. (Landmark Ed)

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Background: Osteopetrosis represents a rare genetic disease with a wide range of clinical and genetic heterogeneity, which results from osteoclast failure. Although up to 10 genes have been identified to be related with osteopetrosis, the pathogenesis of osteopetrosis remains foggy. Disease-specific induced pluripotent stem cells (iPSCs) and gene-corrected disease specific iPSCs provide a platform to generate attractive in vitro disease cell models and isogenic control cellular models respectively. The purpose of this study is to rescue the disease causative mutation in osteopetrosis specific induced pluripotent stem cells and provide isogenic control cellular models. Methods: Based on our previously established osteopetrosis-specific iPSCs (ADO2-iPSCs), we repaired the point mutation R286W of the CLCN7 gene in ADO2-iPSCs by the clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9) mediated homologous recombination. Results: The obtained gene corrected ADO2-iPSCs (GC-ADO2-iPSCs) were characterized in terms of hESC-like morphology, a normal karyotype, expression of pluripotency markers, homozygous repaired sequence of CLCN7 gene, and the ability to differentiate into cells of three germ layers. Conclusions: We successfully corrected the point mutation R286W of the CLCN7 gene in ADO2-iPSCs. This isogenic iPSC line is an ideal control cell model for deciphering the pathogenesis of osteopetrosis in future studies.

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Section: Discussionmentioning

confidence: 99%