Evidence map›Paper›PMID 24854990›Full record

ArticleLeukemia2015

Distinct iron architecture in SF3B1-mutant myelodysplastic syndrome patients is linked to an SLC25A37 splice variant with a retained intron.

V Visconte, N Avishai, R Mahfouz, A Tabarroki, J Cowen, R Sharghi-Moshtaghin, M Hitomi, H J Rogers, E Hasrouni, J Phillips and 5 more

Abstract read
PubMed Publisher
In one paragraph

Article in Leukemia, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.

0numbers the graph read from it
0cells of the map it votes in
44citing papers in PubMed
4.5field-weighted citation impact, top 5% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

44 citing papers in PubMed, 62 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Iron-Loading Anemias.Advances in experimental medicine and biology · 2025
    Review
  6. Review
  7. Review
  8. Article
  9. Review
  10. Article
  11. Article
  12. Article
  13. Review
  14. Article
  15. Review
  16. Review
  17. Article
  18. Molecular Targeted Therapy and Immunotherapy for Myelodysplastic Syndrome.International journal of molecular sciences · 2021
    Review
  19. RNA mFrontiers in cell and developmental biology · 2021
    Article
  20. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors at 2 institutions in 1 country.

V VisconteDepartment of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH, USA.
N AvishaiDepartment of Materials Science and Engineering, Swagelok Center for Surface Analysis of Materials, Case Western Reserve University, Cleveland, OH, USA.
R MahfouzDepartment of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH, USA.
A TabarrokiDepartment of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH, USA.
J CowenDepartment of Materials Science and Engineering, Swagelok Center for Surface Analysis of Materials, Case Western Reserve University, Cleveland, OH, USA.
R Sharghi-MoshtaghinDepartment of Materials Science and Engineering, Swagelok Center for Surface Analysis of Materials, Case Western Reserve University, Cleveland, OH, USA.
M HitomiElectron Microscopy Facility, Case Western Reserve University, Cleveland, OH, USA.
H J RogersDepartment of Clinical Pathology, Cleveland Clinic, Cleveland, OH, USA.
E HasrouniDepartment of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH, USA.
J PhillipsDepartment of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH, USA.
M A Sekeres1] Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH, USA [2] Leukemia Program, Department of Hematologic Oncology and Blood Disorders, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH, USA.
A H HeuerDepartment of Materials Science and Engineering, Swagelok Center for Surface Analysis of Materials, Case Western Reserve University, Cleveland, OH, USA.
Y Saunthararajah1] Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH, USA [2] Leukemia Program, Department of Hematologic Oncology and Blood Disorders, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH, USA.
J BarnardDepartment of Quantitative Health Sciences, Cleveland Clinic, OH, USA.
R V Tiu1] Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH, USA [2] Leukemia Program, Department of Hematologic Oncology and Blood Disorders, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH, USA.
Cleveland Clinic · USCase Western Reserve University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Perturbation in iron homeostasis is a hallmark of some hematologic diseases. Abnormal sideroblasts with accumulation of iron in the mitochondria are named ring sideroblasts (RS). RS is a cardinal feature of refractory anemia with RS (RARS) and RARS with marked thrombocytosis (RARS/-T). Mutations in SF3B1, a member of the RNA splicing machinery are frequent in RARS/-T and defects of this gene were linked to RS formation. Here we showcase the differences in iron architecture of SF3B1-mutant and wild-type (WT) RARS/-T and provide new mechanistic insights by which SF3B1 mutations lead to differences in iron. We found higher iron levels in SF3B1 mutant vs WT RARS/-T by transmission electron microscopy/spectroscopy/flow cytometry. SF3B1 mutations led to increased iron without changing the valence as shown by the presence of Fe(2+) in mutant and WT. Reactive oxygen species and DNA damage were not increased in SF3B1-mutant patients. RNA-sequencing and Reverse transcriptase PCR showed higher expression of a specific isoform of SLC25A37 in SF3B1-mutant patients, a crucial importer of Fe(2+) into the mitochondria. Our studies suggest that SF3B1 mutations contribute to cellular iron overload in RARS/-T by deregulating SLC25A37.

Indexed as

IntronsMutationRNA SplicingCase-Control StudiesCation Transport ProteinsDNA DamageFlow CytometryHumansIronMitochondriaMitochondrial ProteinsMyelodysplastic SyndromesPhosphoproteinsReactive Oxygen SpeciesReverse Transcriptase Polymerase Chain ReactionRibonucleoprotein, U2 Small NuclearCation Transport ProteinsIronMitochondrial ProteinsPhosphoproteinsReactive Oxygen SpeciesRibonucleoprotein, U2 Small NuclearRNA Splicing FactorsSF3B1 protein, humanSlc25a37 protein, human

Identifiers

PMID24854990
OpenAlexW2023181046

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.