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POLRMT mutations impair mitochondrial transcription causing neurological disease
- Olahova, M. (author)
-
- Peter, Bradley (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk kemi och cellbiologi,Institute of Biomedicine, Department of Medical Biochemistry and Cell Biology
-
- Szilagyi, Zsolt (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk kemi och cellbiologi,Institute of Biomedicine, Department of Medical Biochemistry and Cell Biology
- show more...
- Sommerville, E. W. (author)
- Blakely, E. L. (author)
- Collier, J. J. (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)
- Taylor, R. W. (author)
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- (creator_code:org_t)
- 2021-02-18
- 2021
- English.
- In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1
- Journal article (peer-reviewed)
Abstract
Subject headings
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- 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
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)
Keyword
- Science & Technology - Other Topics
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- ref (subject category)
- art (subject category)
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- Olahova, M.
- Peter, Bradley
- Szilagyi, Zsolt
- Diaz-Maldonado, ...
- Singh, Meenakshi
- Sommerville, E. ...
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- Blakely, E. L.
- Collier, J. J.
- Hoberg, Emily, 1 ...
- Stranecky, V.
- Hartmannova, H.
- Bleyer, A. J.
- McBride, K. L.
- Bowden, S. A.
- Korandova, Z.
- Pecinova, A.
- Ropers, H. H.
- Kahrizi, K.
- Najmabadi, H.
- Tarnopolsky, M. ...
- Brady, L. I.
- Weaver, K. N.
- Prada, C. E.
- Ounap, K.
- Wojcik, M. H.
- Pajusalu, S.
- Syeda, S. B.
- Pais, L.
- Estrella, E. A.
- Bruels, C. C.
- Kunkel, L. M.
- Kang, P. B.
- Bonnen, P. E.
- Mracek, T.
- Kmoch, S.
- Gorman, G. S.
- Falkenberg, Mari ...
- Gustafsson, Clae ...
- Taylor, R. W.
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