ArticleThe Journal of clinical investigation2020
Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia.
Article in The Journal of clinical investigation, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 31 citations in OpenAlex.
- Inherited microcytic anemias due to disorders of iron and heme metabolism: An updated clinical review.HemaSphere · 2026Review
- Regulatory networks of iron sulfur cluster biology in cancer mechanisms and therapeutic perspectives.iScience · 2026Review
- Molecular Mechanisms of Iron Metabolism and Overload.Biomedicines · 2025Review
- LPS mediates cuproptosis and inflammation in THP-1 macrophages through HKDC1.Acta biochimica et biophysica Sinica · 2025Article
- The involvement of mitochondria in erythrocyte pathology and diseases: from mechanisms to therapeutic strategies.Clinical and experimental medicine · 2025Review
- Friedreich ataxia: what can we learn from non-GAA repeat mutations?Neurodegenerative disease management · 2025Review
- P2 Receptor Antagonists Rescue Defective Heme Content in an In Vitro SLC25A38-Associated Congenital Sideroblastic Anemia Cell Model.International journal of molecular sciences · 2024Article
- Iron overload in acquired sideroblastic anemias and MDS: pathophysiology and role of chelation and luspatercept.Hematology. American Society of Hematology. Education Program · 2024Review
- Article
- Differentiation and Growth-Arrest-Related lncRNA (International journal of molecular sciences · 2024Article
- PI3K/HSCB axis facilitates FOG1 nuclear translocation to promote erythropoiesis and megakaryopoiesis.eLife · 2024Article
- Plasma proteomic signature predicts who will get persistent symptoms following SARS-CoV-2 infection.EBioMedicine · 2022Article
- Iron Metabolism in the Disorders of Heme Biosynthesis.Metabolites · 2022Review
- Molecular Mechanisms of Iron and Heme Metabolism.Annual review of nutrition · 2022Review
- When Ring Sideroblasts on Bone Marrow Smears Are Inconsistent with the Diagnosis of Myelodysplastic Neoplasms.Diagnostics (Basel, Switzerland) · 2022Review
- Mammalian iron sulfur cluster biogenesis and human diseases.IUBMB life · 2022Article
- Using the Zebrafish as a Genetic Model to Study Erythropoiesis.International journal of molecular sciences · 2021Review
- Mitochondrial HSP70 Chaperone System-The Influence of Post-Translational Modifications and Involvement in Human Diseases.International journal of molecular sciences · 2021Review
- Mechanisms of cellular iron sensing, regulation of erythropoiesis and mitochondrial iron utilization.Seminars in hematology · 2021Review
Corrections and comments
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Authors and funding
16 authors at 5 institutions in 1 country.
Funding
Abstract
The congenital sideroblastic anemias (CSAs) can be caused by primary defects in mitochondrial iron-sulfur (Fe-S) cluster biogenesis. HSCB (heat shock cognate B), which encodes a mitochondrial cochaperone, also known as HSC20 (heat shock cognate protein 20), is the partner of mitochondrial heat shock protein A9 (HSPA9). Together with glutaredoxin 5 (GLRX5), HSCB and HSPA9 facilitate the transfer of nascent 2-iron, 2-sulfur clusters to recipient mitochondrial proteins. Mutations in both HSPA9 and GLRX5 have previously been associated with CSA. Therefore, we hypothesized that mutations in HSCB could also cause CSA. We screened patients with genetically undefined CSA and identified a frameshift mutation and a rare promoter variant in HSCB in a female patient with non-syndromic CSA. We found that HSCB expression was decreased in patient-derived fibroblasts and K562 erythroleukemia cells engineered to have the patient-specific promoter variant. Furthermore, gene knockdown and deletion experiments performed in K562 cells, zebrafish, and mice demonstrate that loss of HSCB results in impaired Fe-S cluster biogenesis, a defect in RBC hemoglobinization, and the development of siderocytes and more broadly perturbs hematopoiesis in vivo. These results further affirm the involvement of Fe-S cluster biogenesis in erythropoiesis and hematopoiesis and define HSCB as a CSA gene.
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Registered trials
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