WFRF:(Novacic D.)
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- Erdinc, DirenisGothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk kemi och cellbiologi,Institute of Biomedicine, Department of Medical Biochemistry and Cell Biology (author)
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability
- Article/chapterEnglish2023
Publisher, publication year, extent ...
- 2023
Numbers
- LIBRIS-ID:oai:gup.ub.gu.se/326486
- https://gup.ub.gu.se/publication/326486URI
- https://doi.org/10.15252/emmm.202216775DOI
Supplementary language notes
- Language:English
Part of subdatabase
- SwePubSwePub
Classification
Notes
- Topoisomerase 3 alpha (TOP3A) is an enzyme that removes torsional strain and interlinks between DNA molecules. TOP3A localises to both the nucleus and mitochondria, with the two isoforms playing specialised roles in DNA recombination and replication respectively. Pathogenic variants in TOP3A can cause a disorder similar to Bloom syndrome, which results from bi-allelic pathogenic variants in BLM, encoding a nuclear-binding partner of TOP3A. In this work, we describe 11 individuals from 9 families with an adult-onset mitochondrial disease resulting from bi-allelic TOP3A gene variants. The majority of patients have a consistent clinical phenotype characterised by bilateral ptosis, ophthalmoplegia, myopathy and axonal sensory-motor neuropathy. We present a comprehensive characterisation of the effect of TOP3A variants, from individuals with mitochondrial disease and Bloom-like syndrome, upon mtDNA maintenance and different aspects of enzyme function. Based on these results, we suggest a model whereby the overall severity of the TOP3A catalytic defect determines the clinical outcome, with milder variants causing adult-onset mitochondrial disease and more severe variants causing a Bloom-like syndrome with mitochondrial dysfunction in childhood.
Subject headings and genre
- MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin hsv//swe
- MEDICAL AND HEALTH SCIENCES Clinical Medicine hsv//eng
- Bloom syndrome
- mitochondrial disease
- mtDNA
- TOP3A
- topoisomerase-iii-alpha
- impair mtdna replication
- syndrome
- gene-product
- d-loop
- essential component
- syndrome protein
- DNA
- mutations
- duplication
- deletions
- Research & Experimental Medicine
Added entries (persons, corporate bodies, meetings, titles ...)
- Rodriguez-Luis, A. (author)
- Fassad, M. R. (author)
- Mackenzie, S. (author)
- Watson, C. M. (author)
- Valenzuela, Sebastian,1993Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk kemi och cellbiologi,Institute of Biomedicine, Department of Medical Biochemistry and Cell Biology(Swepub:gu)xvalse (author)
- Xie, XieGothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk kemi och cellbiologi,Institute of Biomedicine, Department of Medical Biochemistry and Cell Biology(Swepub:gu)xxiexi (author)
- Menger, K. E. (author)
- Sergeant, K. (author)
- Craig, K. (author)
- Hopton, S. (author)
- Falkous, G. (author)
- Poulton, J. (author)
- Garcia-Moreno, H. (author)
- Giunti, P. (author)
- Aschoff, C. A. D. (author)
- Saute, J. A. M. (author)
- Kirby, A. J. (author)
- Toro, C. (author)
- Wolfe, L. (author)
- Novacic, D. (author)
- Greenbaum, L. (author)
- Eliyahu, A. (author)
- Barel, O. (author)
- Anikster, Y. (author)
- McFarland, R. (author)
- Gorman, G. S. (author)
- Schaefer, A. M. (author)
- Gustafsson, Claes M,1966Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk kemi och cellbiologi,Institute of Biomedicine, Department of Medical Biochemistry and Cell Biology(Swepub:gu)xgucla (author)
- Taylor, R. W. (author)
- Falkenberg, Maria,1968Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk kemi och cellbiologi,Institute of Biomedicine, Department of Medical Biochemistry and Cell Biology(Swepub:gu)xfamar (author)
- Nicholls, T. J. (author)
- Göteborgs universitetInstitutionen för biomedicin, avdelningen för medicinsk kemi och cellbiologi (creator_code:org_t)
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- In:Embo Molecular Medicine15:51757-4676
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