Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans
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Selenium, a trace element that is fundamental to human health, is incorporated into some proteins as selenocysteine (Sec), generating a family of selenoproteins. Sec incorporation is mediated by a multiprotein complex that includes Sec insertion sequence-binding protein 2 (SECISBP2; also known as SBP2). Here, we describe subjects with compound heterozygous defects in the SECISBP2 gene. These individuals have reduced synthesis of most of the 25 known human selenoproteins, resulting in a complex phenotype. Azoospermia, with failure of the latter stages of spermatogenesis, was associated with a lack of testis-enriched selenoproteins. An axial muscular dystrophy was also present, with features similar to myopathies caused by mutations in selenoprotein N (SEPN1). Cutaneous deficiencies of antioxidant selenoenzymes, increased cellular ROS, and susceptibility to ultraviolet radiation-induced oxidative damage may mediate the observed photosensitivity. Reduced levels of selenoproteins in peripheral blood cells were associated with impaired T lymphocyte proliferation, abnormal mononuclear cell cytokine secretion, and telomere shortening. Paradoxically, raised ROS in affected subjects was associated with enhanced systemic and cellular insulin sensitivity, similar to findings in mice lacking the antioxidant selenoenzyme glutathione peroxidase 1 (GPx1). Thus, mutation of SECISBP2 is associated with a multisystem disorder with defective biosynthesis of many selenoproteins, highlighting their role in diverse biological processes.
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Patients with SBP2 mutations have reduced levels of most selenoproteins and a multi-symptom disorder.
“Patients with mutations in the SBP2 gene have been identified who have reduced amounts of most selenoproteins and displayed a multiple-symptom disorder [69, 70, 71, 72].”
From Ferroptosis: Death by Lipid Peroxidation (2016) · cites this paper as [71]
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- Authors
- Schoenmakers, E., Agostini, M., Mitchell, C., Schoenmakers, N., Papp, L., Rajanayagam, O., Padidela, R., Ceron-Gutierrez, L., Doffinger, R., Prevosto, C., Luan, J., Montano, S., Lu, J., Castanet, M., Clemons, N., Groeneveld, M., Castets, P., Karbaschi, M., Aitken, S., Dixon, A., Williams, J., Campi, I., Blount, M., Burton, H., Muntoni, F., O’Donovan, D., Dean, A., Warren, A., Brierley, C., Baguley, D., Guicheney, P., Fitzgerald, R., Coles, A., Gaston, H., Todd, P., Holmgren, A., Khanna, K. K., Cooke, M., Semple, R., Halsall, D., Wareham, N., Schwabe, J., Grasso, L., Beck-Peccoz, P., Ogunko, A., Dattani, M., Gurnell, M., & Chatterjee, K.
- Affiliations
- University of Cambridge (GB)
- QIMR Berghofer Medical Research Institute (AU)
- Great Ormond Street Hospital (GB)
- MRC Epidemiology Unit (GB)
- Karolinska Institutet (SE)
- Inserm (FR)
- University of Leicester (GB)
- University of Pisa (IT)
- Darent Valley Hospital (GB)
- ORCID
- Schoenmakers, Erik
- Agostini, Maura
- Schoenmakers, Nadia
- Padidela, Raja
- Luan, Jian’an
- Lu, Jun
- Castanet, Mireille
- Groeneveld, Matthijs
- Castets, Perrine
- Campi, Irene
- Brierley, Charlotte
- Baguley, David
- Guicheney, Pascale
- Fitzgerald, Rebecca
- Coles, Alasdair
- Gaston, Hill
- Holmgren, Arne
- Khanna, Kum Kum
- Cooke, Marcus
- Semple, Robert
- Halsall, David
- Wareham, Nicholas
- Schwabe, John
- Dattani, Mehul
- Gurnell, Mark
- Chatterjee, Krishna
- Venue
- Journal of Clinical Investigation
- Published
- 2010-12-01
- Volume
- 120
- Issue
- 12
- Pages
- 4220-4235
- ISSN
- 0021-9738 (ISSN-L)
- PMC
- PMC2993594
- OpenAlex
- W2123186374
- Cited by
- 315
- References
- 76
- Citations by year
- 2026: 8 · 2025: 10 · 2024: 18 · 2023: 11 · 2022: 24 · 2021: 17 · 2020: 23 · 2019: 23 · 2018: 23 · 2017: 18 · 2016: 24 · 2015: 22 · 2014: 21 · 2013: 27 · 2012: 19
- FWCI
- 21.33
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Clinical Investigation (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- QUT ePrints (Queensland University of Technology) (submittedVersion)
- Archive ouverte UNIGE (University of Geneva) (submittedVersion, cc-by)
- CINECA IRIS Institutial research information system (University of Pisa) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Leicester Research Archive (University of Leicester) (submittedVersion)
- University of Birmingham Research Portal (University of Birmingham) (submittedVersion, other-oa)
- Funders
- Wellcome Trust
- National Institute for Health and Care Research
- Muscular Dystrophy UK
- Medical Research Council
- NIHR Cambridge Biomedical Research Centre
- Topics
- Health Sciences › Nursing › Nutrition and Dietetics › Selenium in Biological Systems
- Life Sciences › Pharmacology, Toxicology and Pharmaceutics › Toxicology › Organoselenium and organotellurium chemistry
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- selenocysteine incorporation, selenoproteins, compound heterozygosity, azoospermia, spermatogenesis, muscular dystrophy, SEPN1, photosensitivity, reactive oxygen species, T cell proliferation, cytokine production, telomere shortening, insulin sensitivity, glutathione peroxidase 1, multisystem disease
- MeSH terms
- Adult, Aged, Amino Acid Sequence, Animals, Base Sequence, Child, Child, Preschool, DNA, Female, Hearing Loss, Sensorineural, Humans, Insulin Resistance, Male, Middle Aged, Models, Molecular, Molecular Sequence Data, Muscular Dystrophies, Mutation, Pedigree, Photosensitivity Disorders, Spermatogenesis, T-Lymphocytes, RNA-Binding Proteins, Selenocysteine, Reactive Oxygen Species, Sequence Homology, Amino Acid, Codon, Nonsense, Mutation, Missense, Selenoproteins, Mice, Azoospermia
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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