Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression

We describe the clinical, biochemical and molecular characterization of two adults with progressive exercise intolerance and severe isolated mitochondrial complex I (CI) deficiency due to novel MTND1 mutations. We demonstrate compensatory CI assembly factor up-regulation probably partially rescuing...

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Autores principales: Gorman, Grainne S., Blakely, Emma L., Hornig-Do, Hue-Tran, Tuppen, Helen A.L., Greaves, Laura C., He, Langping, Baker, Angela, Falkous, Gavin, Newman, Jane, Trenell, Michael I., Lecky, Bryan, Petty, Richard K., Turnbull, Doug M., McFarland, Robert, Taylor, Robert W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2015
Materias:
Original Papers
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613521/
https://www.ncbi.nlm.nih.gov/pubmed/25626417
http://dx.doi.org/10.1042/CS20140705
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author Gorman, Grainne S.
Blakely, Emma L.
Hornig-Do, Hue-Tran
Tuppen, Helen A.L.
Greaves, Laura C.
He, Langping
Baker, Angela
Falkous, Gavin
Newman, Jane
Trenell, Michael I.
Lecky, Bryan
Petty, Richard K.
Turnbull, Doug M.
McFarland, Robert
Taylor, Robert W.
author_facet Gorman, Grainne S.
Blakely, Emma L.
Hornig-Do, Hue-Tran
Tuppen, Helen A.L.
Greaves, Laura C.
He, Langping
Baker, Angela
Falkous, Gavin
Newman, Jane
Trenell, Michael I.
Lecky, Bryan
Petty, Richard K.
Turnbull, Doug M.
McFarland, Robert
Taylor, Robert W.
author_sort Gorman, Grainne S.
collection PubMed
description We describe the clinical, biochemical and molecular characterization of two adults with progressive exercise intolerance and severe isolated mitochondrial complex I (CI) deficiency due to novel MTND1 mutations. We demonstrate compensatory CI assembly factor up-regulation probably partially rescuing the clinical phenotype.
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spelling pubmed-46135212015-10-23 Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression Gorman, Grainne S. Blakely, Emma L. Hornig-Do, Hue-Tran Tuppen, Helen A.L. Greaves, Laura C. He, Langping Baker, Angela Falkous, Gavin Newman, Jane Trenell, Michael I. Lecky, Bryan Petty, Richard K. Turnbull, Doug M. McFarland, Robert Taylor, Robert W. Clin Sci (Lond) Original Papers We describe the clinical, biochemical and molecular characterization of two adults with progressive exercise intolerance and severe isolated mitochondrial complex I (CI) deficiency due to novel MTND1 mutations. We demonstrate compensatory CI assembly factor up-regulation probably partially rescuing the clinical phenotype. Portland Press Ltd. 2015-03-27 2015-06-01 /pmc/articles/PMC4613521/ /pubmed/25626417 http://dx.doi.org/10.1042/CS20140705 Text en © The Authors Journal compilation © 2015 Biochemical Society http://creativecommons.org/licenses/by/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Licence (CC-BY) (http://creativecommons.org/licenses/by/3.0/) which permits unrestricted use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Papers
Gorman, Grainne S.
Blakely, Emma L.
Hornig-Do, Hue-Tran
Tuppen, Helen A.L.
Greaves, Laura C.
He, Langping
Baker, Angela
Falkous, Gavin
Newman, Jane
Trenell, Michael I.
Lecky, Bryan
Petty, Richard K.
Turnbull, Doug M.
McFarland, Robert
Taylor, Robert W.
Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression
title Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression
title_full Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression
title_fullStr Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression
title_full_unstemmed Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression
title_short Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression
title_sort novel mtnd1 mutations cause isolated exercise intolerance, complex i deficiency and increased assembly factor expression
topic Original Papers
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613521/
https://www.ncbi.nlm.nih.gov/pubmed/25626417
http://dx.doi.org/10.1042/CS20140705
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