WFRF:(Wortmann S.)
Sökning: WFRF:(Wortmann S.) > SSBP1 mutations cau...
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 05408naa a2200973 4500 | |
| 001 | oai:gup.ub.gu.se/289571 | |
| 003 | SwePub | |
| 008 | 240528s2020 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://gup.ub.gu.se/publication/2895712 URI |
| 024 | 7 | a https://doi.org/10.1172/jci1285142 DOI |
| 040 | a (SwePub)gu | |
| 041 | a eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Del Dotto, V.4 aut |
| 245 | 1 0 | a SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder |
| 264 | c 2019-11-18 | |
| 264 | 1 | b American Society for Clinical Investigation,c 2020 |
| 520 | a Inherited optic neuropathies include complex phenotypes, mostly driven by mitochondrial dysfunction. We report an optic atrophy spectrum disorder, including retinal macular dystrophy and kidney insufficiency leading to transplantation, associated with mitochondrial DNA (mtDNA) depletion without accumulation of multiple deletions. By whole-exome sequencing, we identified mutations affecting the mitochondrial single-strand binding protein (SSBP1) in 4 families with dominant and 1 with recessive inheritance. We show that SSBP1 mutations in patient-derived fibroblasts variably affect the amount of SSBP1 protein and alter multimer formation, but not the binding to ssDNA. SSBP1 mutations impaired mtDNA, nucleoids, and 7S-DNA amounts as well as mtDNA replication, affecting replisome machinery. The variable mtDNA depletion in cells was reflected in severity of mitochondrial dysfunction, including respiratory efficiency, OXPHOS subunits, and complex amount and assembly. mtDNA depletion and cytochrome c oxidase-negative cells were found ex vivo in biopsies of affected tissues, such as kidney and skeletal muscle. Reduced efficiency of mtDNA replication was also reproduced in vitro, confirming the pathogenic mechanism. Furthermore, ssbp1 suppression in zebrafish induced signs of nephropathy and reduced optic nerve size, the latter phenotype complemented by WT mRNA but not by SSBP1 mutant transcripts. This previously unrecognized disease of mtDNA maintenance implicates SSBP1 mutations as a cause of human pathology. | |
| 650 | 7 | a NATURVETENSKAPx Biologix Biokemi och molekylärbiologi0 (SwePub)106022 hsv//swe |
| 650 | 7 | a NATURAL SCIENCESx Biological Sciencesx Biochemistry and Molecular Biology0 (SwePub)106022 hsv//eng |
| 653 | a DNA-binding protein | |
| 653 | a mitochondrial transcription factor | |
| 653 | a d-loop | |
| 653 | a opa1 | |
| 653 | a gene | |
| 653 | a replication | |
| 653 | a deletions | |
| 653 | a phosphorylation | |
| 653 | a instability | |
| 653 | a twinkle | |
| 653 | a Research & Experimental Medicine | |
| 700 | 1 | a Ullah, F.4 aut |
| 700 | 1 | a Di Meo, I.4 aut |
| 700 | 1 | a Magini, P.4 aut |
| 700 | 1 | a Gusic, M.4 aut |
| 700 | 1 | a Maresca, A.4 aut |
| 700 | 1 | a Caporali, L.4 aut |
| 700 | 1 | a Palombo, F.4 aut |
| 700 | 1 | a Tagliavini, F.4 aut |
| 700 | 1 | a Baugh, E. H.4 aut |
| 700 | 1 | a Macao, Bertil,d 1969u Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk kemi och cellbiologi,Institute of Biomedicine, Department of Medical Biochemistry and Cell Biology4 aut0 (Swepub:gu)xmacbe |
| 700 | 1 | a Szilagyi, Zsoltu Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk kemi och cellbiologi,Institute of Biomedicine, Department of Medical Biochemistry and Cell Biology4 aut0 (Swepub:gu)xszizs |
| 700 | 1 | a Peron, C.4 aut |
| 700 | 1 | a Gustafson, M. A.4 aut |
| 700 | 1 | a Khan, K.4 aut |
| 700 | 1 | a La Morgia, C.4 aut |
| 700 | 1 | a Barboni, P.4 aut |
| 700 | 1 | a Carbonelli, M.4 aut |
| 700 | 1 | a Valentino, M. L.4 aut |
| 700 | 1 | a Liguori, R.4 aut |
| 700 | 1 | a Shashi, V.4 aut |
| 700 | 1 | a Sullivan, J.4 aut |
| 700 | 1 | a Nagaraj, S.4 aut |
| 700 | 1 | a El-Dairi, M.4 aut |
| 700 | 1 | a Iannaccone, A.4 aut |
| 700 | 1 | a Cutcutache, I.4 aut |
| 700 | 1 | a Bertini, E.4 aut |
| 700 | 1 | a Carrozzo, R.4 aut |
| 700 | 1 | a Emma, F.4 aut |
| 700 | 1 | a Diomedi-Camassei, F.4 aut |
| 700 | 1 | a Zanna, C.4 aut |
| 700 | 1 | a Armstrong, M.4 aut |
| 700 | 1 | a Page, M.4 aut |
| 700 | 1 | a Stong, N.4 aut |
| 700 | 1 | a Boesch, S.4 aut |
| 700 | 1 | a Kopajtich, R.4 aut |
| 700 | 1 | a Wortmann, S.4 aut |
| 700 | 1 | a Sperl, W.4 aut |
| 700 | 1 | a Davis, E. E.4 aut |
| 700 | 1 | a Copeland, W. C.4 aut |
| 700 | 1 | a Seri, M.4 aut |
| 700 | 1 | a Falkenberg, Maria,d 1968u Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk kemi och cellbiologi,Institute of Biomedicine, Department of Medical Biochemistry and Cell Biology4 aut0 (Swepub:gu)xfamar |
| 700 | 1 | a Prokisch, H.4 aut |
| 700 | 1 | a Katsanis, N.4 aut |
| 700 | 1 | a Tiranti, V.4 aut |
| 700 | 1 | a Pippucci, T.4 aut |
| 700 | 1 | a Carelli, V.4 aut |
| 710 | 2 | a Göteborgs universitetb Institutionen för biomedicin, avdelningen för medicinsk kemi och cellbiologi4 org |
| 773 | 0 | t Journal of Clinical Investigationd : American Society for Clinical Investigationg 130:1, s. 108-125q 130:1<108-125x 0021-9738x 1558-8238 |
| 856 | 4 | u http://www.jci.org/articles/view/128514/files/pdf |
| 856 | 4 8 | u https://gup.ub.gu.se/publication/289571 |
| 856 | 4 8 | u https://doi.org/10.1172/jci128514 |
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- Del Dotto, V.
- Ullah, F.
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- Magini, P.
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- Caporali, L.
- Palombo, F.
- Tagliavini, F.
- Baugh, E. H.
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- Szilagyi, Zsolt
- Peron, C.
- Gustafson, M. A.
- Khan, K.
- La Morgia, C.
- Barboni, P.
- Carbonelli, M.
- Valentino, M. L.
- Liguori, R.
- Shashi, V.
- Sullivan, J.
- Nagaraj, S.
- El-Dairi, M.
- Iannaccone, A.
- Cutcutache, I.
- Bertini, E.
- Carrozzo, R.
- Emma, F.
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- Zanna, C.
- Armstrong, M.
- Page, M.
- Stong, N.
- Boesch, S.
- Kopajtich, R.
- Wortmann, S.
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- Davis, E. E.
- Copeland, W. C.
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