ArticleScientific reports2022
Congenital sideroblastic anemia model due to ALAS2 mutation is susceptible to ferroptosis.
Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 23 citations in OpenAlex.
- A New Gain-of-Function NLRP1 Variant Is Associated with Inflammasome Activation and Disease Severity in SLC25A38 Congenital Sideroblastic Anemia Case Report.Journal of personalized medicine · 2026Article
- Article
- A case report of congenital sideroblastic anemia caused by a novel ALAS2 mutation in conjunction with thalassemia.Annals of hematology · 2026Article
- A novel frameshift deletion in SLC25A38 and its role in mitochondrial dysfunction: A case study of sideroblastic anemia in a child from Iran.Annals of hematology · 2026Article
- From Deficiency to Therapy: Systemic Consequences of ALAS1 Disruption and the Protective Role of 5-ALA.Life (Basel, Switzerland) · 2025Review
- An erythroid-specific lentiviral vector improves anemia and iron metabolism in a new model of XLSA.Blood · 2025Article
- Article
- Intracellular biliverdin dynamics during ferroptosis.Journal of biochemistry · 2024Article
- Article
- Ferroptosis regulation by Cap'n'collar family transcription factors.The Journal of biological chemistry · 2024Review
- Elucidating the Role of Human ALAS2 C-terminal Mutations Resulting in Loss of Function and Disease.Biochemistry · 2024Article
- ATP-Binding Cassette Transporter of Clinical Significance: Sideroblastic Anemia.Journal of personalized medicine · 2024Review
- Article
- TANK Binding Kinase 1 Promotes BACH1 Degradation through Both Phosphorylation-Dependent and -Independent Mechanisms without Relying on Heme and FBXO22.International journal of molecular sciences · 2024Article
- A novel and apparentFrontiers in pediatrics · 2024Article
- The interactions between ineffective erythropoiesis and ferroptosis in β-thalassemia.Frontiers in physiology · 2024Review
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Authors and funding
18 authors at 3 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
X-linked sideroblastic anemia (XLSA), the most common form of congenital sideroblastic anemia, is caused by a germline mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene. In XLSA, defective heme biosynthesis leads to ring sideroblast formation because of excess mitochondrial iron accumulation. In this study, we introduced ALAS2 missense mutations on human umbilical cord blood-derived erythroblasts; hereafter, we refer to them as XLSA clones. XLSA clones that differentiated into mature erythroblasts showed an increased frequency of ring sideroblast formation with impaired hemoglobin biosynthesis. The expression profiling revealed significant enrichment of genes involved in ferroptosis, which is a form of regulated cell death induced by iron accumulation and lipid peroxidation. Notably, treatment with erastin, a ferroptosis inducer, caused a higher proportion of cell death in XLSA clones. XLSA clones exhibited significantly higher levels of intracellular lipid peroxides and enhanced expression of BACH1, a regulator of iron metabolism and potential accelerator of ferroptosis. In XLSA clones, BACH1 repressed genes involved in iron metabolism and glutathione synthesis. Collectively, defective heme biosynthesis in XLSA clones could confer enhanced BACH1 expression, leading to increased susceptibility to ferroptosis. The results of our study provide important information for the development of novel therapeutic targets for XLSA.
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