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  • Olahova, M. (author)

POLRMT mutations impair mitochondrial transcription causing neurological disease

  • Article/chapterEnglish2021

Publisher, publication year, extent ...

  • 2021-02-18
  • Springer Science and Business Media LLC,2021

Numbers

  • LIBRIS-ID:oai:gup.ub.gu.se/302748
  • https://gup.ub.gu.se/publication/302748URI
  • https://doi.org/10.1038/s41467-021-21279-0DOI

Supplementary language notes

  • Language:English

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • While >300 disease-causing variants have been identified in the mitochondrial DNA (mtDNA) polymerase gamma, no mitochondrial phenotypes have been associated with POLRMT, the RNA polymerase responsible for transcription of the mitochondrial genome. Here, we characterise the clinical and molecular nature of POLRMT variants in eight individuals from seven unrelated families. Patients present with global developmental delay, hypotonia, short stature, and speech/intellectual disability in childhood; one subject displayed an indolent progressive external ophthalmoplegia phenotype. Massive parallel sequencing of all subjects identifies recessive and dominant variants in the POLRMT gene. Patient fibroblasts have a defect in mitochondrial mRNA synthesis, but no mtDNA deletions or copy number abnormalities. The in vitro characterisation of the recombinant POLRMT mutants reveals variable, but deleterious effects on mitochondrial transcription. Together, our in vivo and in vitro functional studies of POLRMT variants establish defective mitochondrial transcription as an important disease mechanism. POLRMT is key for transcription of the mitochondrial genome, yet has not been implicated in mitochondrial disease to date. Here, the authors identify mutations in POLRMT in individuals with mitochondrial disease-related phenotypes and characterise underlying defects in mitochondrial transcription.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Peter, BradleyGothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk kemi och cellbiologi,Institute of Biomedicine, Department of Medical Biochemistry and Cell Biology(Swepub:gu)xbradp (author)
  • Szilagyi, ZsoltGothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk kemi och cellbiologi,Institute of Biomedicine, Department of Medical Biochemistry and Cell Biology(Swepub:gu)xszizs (author)
  • Diaz-Maldonado, HectorGothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk kemi och cellbiologi,Institute of Biomedicine, Department of Medical Biochemistry and Cell Biology (author)
  • Singh, MeenakshiGothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk kemi och cellbiologi,Institute of Biomedicine, Department of Medical Biochemistry and Cell Biology(Swepub:gu)xsinme (author)
  • Sommerville, E. W. (author)
  • Blakely, E. L. (author)
  • Collier, J. J. (author)
  • Hoberg, Emily,1986Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk kemi och cellbiologi,Institute of Biomedicine, Department of Medical Biochemistry and Cell Biology(Swepub:gu)xhogem (author)
  • Stranecky, V. (author)
  • Hartmannova, H. (author)
  • Bleyer, A. J. (author)
  • McBride, K. L. (author)
  • Bowden, S. A. (author)
  • Korandova, Z. (author)
  • Pecinova, A. (author)
  • Ropers, H. H. (author)
  • Kahrizi, K. (author)
  • Najmabadi, H. (author)
  • Tarnopolsky, M. A. (author)
  • Brady, L. I. (author)
  • Weaver, K. N. (author)
  • Prada, C. E. (author)
  • Ounap, K. (author)
  • Wojcik, M. H. (author)
  • Pajusalu, S. (author)
  • Syeda, S. B. (author)
  • Pais, L. (author)
  • Estrella, E. A. (author)
  • Bruels, C. C. (author)
  • Kunkel, L. M. (author)
  • Kang, P. B. (author)
  • Bonnen, P. E. (author)
  • Mracek, T. (author)
  • Kmoch, S. (author)
  • Gorman, G. S. (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)
  • 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)
  • Göteborgs universitetInstitutionen för biomedicin, avdelningen för medicinsk kemi och cellbiologi (creator_code:org_t)

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  • In:Nature Communications: Springer Science and Business Media LLC12:12041-1723

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