Douglass Turnbull

Last updated
Sir

Douglass Turnbull

FRS FMedSci
Alma mater Newcastle University
Awards
Scientific career
Fields
Institutions
Thesis Mitochondrial cytopathies: clinical and experimental studies  (1983)
Website www.newcastle-mitochondria.com/portfolio/professor-doug-turnbull

Sir Douglass Matthew Turnbull FRS FMedSci is Professor of Neurology at Newcastle University, an Honorary Consultant Neurologist at Newcastle upon Tyne Hospitals NHS Foundation Trust [1] and a director of the Wellcome Trust Centre for Mitochondrial Research. [2] [3] [4] [5]

Contents

Education

Turnbull was educated at Newcastle University, where he was awarded a Bachelor of Medicine, Bachelor of Surgery and qualifying as a junior doctor.[ when? ] [2] He was subsequently awarded a PhD for research investigating Mitochondrial cytopathies. [6]

Research

Turnbull's research investigates techniques for improving the lives of patients with mitochondrial disease. [7] As of 2016 he has supervised 35 successful PhD students to completion and is currently supervising 10 PhD students in progress. [2] His most highly cited research [8] has been published in world leading peer reviewed scientific journals such as Nature , [3] Nature Genetics , [9] [10] Nature Reviews Genetics, [11] the American Journal of Human Genetics, [12] and the Journal of Clinical Investigation . [13]

His research has been funded by the Wellcome Trust, the Biotechnology and Biological Sciences Research Council (BBSRC) and the Medical Research Council (MRC). [14]

Awards and honours

Turnbull delivered the Goulstonian Lectures in 1992 and was awarded the Jean Hunter Prize in 2003, both by the Royal College of Physicians. [2] He was elected a Fellow of the Academy of Medical Sciences in 2004. [15]

Turnbull was knighted in the 2016 Birthday Honours. [16] According to the BBC, his knighthood was awarded for "creating a groundbreaking IVF technique which prevents disabling genetic disorders from being passed on to future generations". [17] This technique uses mitochondrial donation, also known as "three-person babies". [18] [19]

Turnbull was awarded the Buchanan Medal for outstanding contributions to biomedicine particularly in relation to mitochondrial disease, including the development of a method to prevent their transmission. [20]

Related Research Articles

<span class="mw-page-title-main">Mitochondrial DNA</span> DNA located in mitochondria

Mitochondrial DNA is the DNA located in mitochondria, cellular organelles within eukaryotic cells that convert chemical energy from food into a form that cells can use, such as adenosine triphosphate (ATP). Mitochondrial DNA is only a small portion of the DNA in a eukaryotic cell; most of the DNA can be found in the cell nucleus and, in plants and algae, also in plastids such as chloroplasts.

<span class="mw-page-title-main">Mitochondrial disease</span> Spontaneously occurring or inherited disorder that involves mitochondrial dysfunction

Mitochondrial disease is a group of disorders caused by mitochondrial dysfunction. Mitochondria are the organelles that generate energy for the cell and are found in every cell of the human body except red blood cells. They convert the energy of food molecules into the ATP that powers most cell functions.

<span class="mw-page-title-main">Homoplasmy</span> Identity of organellar DNA sequences in a cell

Homoplasmy is a term used in genetics to describe a eukaryotic cell whose copies of mitochondrial DNA are all identical. In normal and healthy tissues, all cells are homoplasmic. Homoplasmic mitochondrial DNA copies may be normal or mutated; however, most mutations are heteroplasmic. It has been discovered, though, that homoplasmic mitochondrial DNA mutations may be found in human tumors.

<span class="mw-page-title-main">Leber's hereditary optic neuropathy</span> Mitochondrially inherited degeneration of retinal cells in human

Leber's hereditary optic neuropathy (LHON) is a mitochondrially inherited degeneration of retinal ganglion cells (RGCs) and their axons that leads to an acute or subacute loss of central vision; it predominantly affects young adult males. LHON is transmitted only through the mother, as it is primarily due to mutations in the mitochondrial genome, and only the egg contributes mitochondria to the embryo. Men cannot pass on the disease to their offspring. LHON is usually due to one of three pathogenic mitochondrial DNA (mtDNA) point mutations. These mutations are at nucleotide positions 11778 G to A, 3460 G to A and 14484 T to C, respectively in the ND4, ND1 and ND6 subunit genes of complex I of the oxidative phosphorylation chain in mitochondria.

<span class="mw-page-title-main">Wellcome Sanger Institute</span> British genomics research institute

The Wellcome Sanger Institute, previously known as The Sanger Centre and Wellcome Trust Sanger Institute, is a non-profit British genomics and genetics research institute, primarily funded by the Wellcome Trust.

<span class="mw-page-title-main">Cambridge Reference Sequence</span> The reference sequence of the human mitochondrial DNA

The Cambridge Reference Sequence (CRS) for human mitochondrial DNA was first announced in 1981.

<span class="mw-page-title-main">MT-ND6</span> Mitochondrial gene coding for a protein involved in the respiratory chain

MT-ND6 is a gene of the mitochondrial genome coding for the NADH-ubiquinone oxidoreductase chain 6 protein (ND6). The ND6 protein is a subunit of NADH dehydrogenase (ubiquinone), which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain. Variations in the human MT-ND6 gene are associated with Leigh's syndrome, Leber's hereditary optic neuropathy (LHON) and dystonia.

<span class="mw-page-title-main">MT-ND4</span> Mitochondrial gene coding for a protein involved in the respiratory chain

MT-ND4 is a gene of the mitochondrial genome coding for the NADH-ubiquinone oxidoreductase chain 4 (ND4) protein. The ND4 protein is a subunit of NADH dehydrogenase (ubiquinone), which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain. Variations in the MT-ND4 gene are associated with age-related macular degeneration (AMD), Leber's hereditary optic neuropathy (LHON), mesial temporal lobe epilepsy (MTLE) and cystic fibrosis.

<span class="mw-page-title-main">MT-ND2</span> Mitochondrial gene coding for a protein involved in the respiratory chain

MT-ND2 is a gene of the mitochondrial genome coding for the NADH dehydrogenase 2 (ND2) protein. The ND2 protein is a subunit of NADH dehydrogenase (ubiquinone), which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain. Variants of human MT-ND2 are associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), Leigh's syndrome (LS), Leber's hereditary optic neuropathy (LHON) and increases in adult BMI.

<span class="mw-page-title-main">MT-ND4L</span> Mitochondrial gene coding for a protein involved in the respiratory chain

MT-ND4L is a gene of the mitochondrial genome coding for the NADH-ubiquinone oxidoreductase chain 4L (ND4L) protein. The ND4L protein is a subunit of NADH dehydrogenase (ubiquinone), which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain. Variants of human MT-ND4L are associated with increased BMI in adults and Leber's Hereditary Optic Neuropathy (LHON).

<span class="mw-page-title-main">MT-ATP8</span> Mitochondrial protein-coding gene whose product is involved in ATP synthesis

MT-ATP8 is a mitochondrial gene with the full name 'mitochondrially encoded ATP synthase membrane subunit 8' that encodes a subunit of mitochondrial ATP synthase, ATP synthase Fo subunit 8. This subunit belongs to the Fo complex of the large, transmembrane F-type ATP synthase. This enzyme, which is also known as complex V, is responsible for the final step of oxidative phosphorylation in the electron transport chain. Specifically, one segment of ATP synthase allows positively charged ions, called protons, to flow across a specialized membrane inside mitochondria. Another segment of the enzyme uses the energy created by this proton flow to convert a molecule called adenosine diphosphate (ADP) to ATP. Subunit 8 differs in sequence between Metazoa, plants and Fungi.

Mitochondrially encoded tRNA leucine 1 (UUA/G) also known as MT-TL1 is a transfer RNA which in humans is encoded by the mitochondrial MT-TL1 gene.

<span class="mw-page-title-main">POLG</span> Protein-coding gene in the species Homo sapiens

DNA polymerase subunit gamma is an enzyme that in humans is encoded by the POLG gene. Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE).

<span class="mw-page-title-main">Cytochrome c oxidase subunit 2</span> Enzyme of the respiratory chain encoded by the mitochondrial genome

Cytochrome c oxidase II is a protein in eukaryotes that is encoded by the MT-CO2 gene. Cytochrome c oxidase subunit II, abbreviated COXII, COX2, COII, or MT-CO2, is the second subunit of cytochrome c oxidase. It is also one of the three mitochondrial DNA (mtDNA) encoded subunits of respiratory complex IV.

<span class="mw-page-title-main">Cytochrome c oxidase subunit III</span> Enzyme of the respiratory chain encoded by the mitochondrial genome

Cytochrome c oxidase subunit III (COX3) is an enzyme that in humans is encoded by the MT-CO3 gene. It is one of main transmembrane subunits of cytochrome c oxidase. It is also one of the three mitochondrial DNA (mtDNA) encoded subunits of respiratory complex IV. Variants of it have been associated with isolated myopathy, severe encephalomyopathy, Leber hereditary optic neuropathy, mitochondrial complex IV deficiency, and recurrent myoglobinuria.

<span class="mw-page-title-main">Twinkle (protein)</span> Human mitochondrial protein

Twinkle protein also known as twinkle mtDNA helicase is a mitochondrial protein that in humans is encoded by the TWNK gene located in the long arm of chromosome 10 (10q24.31).

Mitochondrially encoded tRNA valine also known as MT-TV is a transfer RNA which in humans is encoded by the mitochondrial MT-TV gene.

Mitochondrially encoded tRNA phenylalanine also known as MT-TF is a transfer RNA which in humans is encoded by the mitochondrial MT-TF gene.

Mitochondrial replacement therapy (MRT), sometimes called mitochondrial donation, is the replacement of mitochondria in one or more cells to prevent or ameliorate disease. MRT originated as a special form of in vitro fertilisation in which some or all of the future baby's mitochondrial DNA (mtDNA) comes from a third party. This technique is used in cases when mothers carry genes for mitochondrial diseases. The therapy is approved for use in the United Kingdom. A second application is to use autologous mitochondria to replace mitochondria in damaged tissue to restore the tissue to a functional state. This has been used in clinical research in the United States to treat cardiac-compromised newborns.

Professor Patrick Francis Chinnery, FRCP, FRCPath, FMedSci, is a neurologist, clinician scientist, and Wellcome Trust Principal Research Fellow based in the Medical Research Council Mitochondrial Biology Unit and the University of Cambridge, where he is also Professor of Neurology and Head of the Department of Clinical Neurosciences.

References

  1. ↑ "Turnbull, Professor Douglass M". newcastle-hospitals.org.uk. Archived from the original on 2015-06-25.
  2. 1 2 3 4 "Professor Doug Turnbull: Personal Biography". newcastle-mitochondria.com. Newcastle upon Tyne. 17 March 2016. Archived from the original on 2016-03-31.
  3. 1 2 Craven, Lyndsey; Tuppen, Helen A.; Greggains, Gareth D.; Harbottle, Stephen J.; Murphy, Julie L.; Cree, Lynsey M.; Murdoch, Alison P.; Chinnery, Patrick F.; Taylor, Robert W.; Lightowlers, Robert N.; Herbert, Mary; Turnbull, Douglass M. (2010). "Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease". Nature. 465 (7294): 82–85. Bibcode:2010Natur.465...82C. doi:10.1038/nature08958. PMC   2875160 . PMID   20393463. Open Access logo PLoS transparent.svg
  4. ↑ Healing broken batteries: The Wellcome Trust Centre for Mitochondrial Research on YouTube, Wellcome Trust, London
  5. ↑ Graeme Whitfield (2015). "Newcastle University medical pioneer Doug Turnbull discusses his game-changing research". thejournal.co.uk. Newcastle: The Journal. Archived from the original on 2020-08-18. Retrieved 2016-06-16.
  6. ↑ Turnbull, Douglass Matthew (1983). Mitochondrial cytopathies: clinical and experimental studies (PhD thesis). Newcastle upon Tyne University. OCLC   11274373.
  7. ↑ Lightowlers, Robert N.; Chinnery, Patrick F.; Turnbull, Douglass M.; Howell, Neil (1997). "Mammalian mitochondrial genetics: heredity, heteroplasmy and disease". Trends in Genetics. 13 (11): 450–455. doi:10.1016/S0168-9525(97)01266-3. PMID   9385842.
  8. ↑ Douglass Turnbull's publications indexed by the Scopus bibliographic database. (subscription required)
  9. ↑ Turnbull, Douglass M.; Andrews, Richard M.; Kubacka, Iwona; Chinnery, Patrick F.; Lightowlers, Robert N.; Howell, Neil (1999). "Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA". Nature Genetics. 23 (2): 147. doi: 10.1038/13779 . PMID   10508508.
  10. ↑ Bender, Andreas; Krishnan, Kim J; Morris, Christopher M; Taylor, Geoffrey A; Reeve, Amy K; Perry, Robert H; Jaros, Evelyn; Hersheson, Joshua S; Betts, Joanne; Klopstock, Thomas; Taylor, Robert W; Turnbull, Douglass M (2006). "High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease". Nature Genetics. 38 (5): 515–517. doi:10.1038/ng1769. PMID   16604074. S2CID   13956928.
  11. ↑ Taylor, Robert W.; Turnbull, Doug M. (2005). "Mitochondrial DNA mutations in human disease". Nature Reviews Genetics. 6 (5): 389–402. doi:10.1038/nrg1606. PMC   1762815 . PMID   15861210.
  12. ↑ Herrnstadt, Corinna; Elson, Joanna L.; Fahy, Eoin; Preston, Gwen; Turnbull, Douglass M.; Anderson, Christen; Ghosh, Soumitra S.; Olefsky, Jerrold M.; Beal, M. Flint; Davis, Robert E.; Howell, Neil (2002). "Reduced-Median-Network Analysis of Complete Mitochondrial DNA Coding-Region Sequences for the Major African, Asian, and European Haplogroups". The American Journal of Human Genetics. 70 (5): 1152–1171. doi:10.1086/339933. PMC   447592 . PMID   11938495. Open Access logo PLoS transparent.svg
  13. ↑ Taylor, Robert W.; Barron, Martin J.; Borthwick, Gillian M.; Gospel, Amy; Chinnery, Patrick F.; Samuels, David C.; Taylor, Geoffrey A.; Plusa, Stefan M.; Needham, Stephanie J.; Greaves, Laura C.; Kirkwood, Thomas B.L.; Turnbull, Douglass M. (2003). "Mitochondrial DNA mutations in human colonic crypt stem cells". Journal of Clinical Investigation. 112 (9): 1351–1360. doi:10.1172/JCI19435. PMC   228466 . PMID   14597761. Open Access logo PLoS transparent.svg
  14. ↑ "UK Government grants awarded to Doug Turnbull". rcuk.ac.uk. Swindon: Research Councils UK. Archived from the original on 2016-06-16.
  15. ↑ "Professor Doug Turnbull FMedSci". acmedsci.ac.uk. London: Academy of Medical Sciences. Archived from the original on 2016-06-16.
  16. ↑ "No. 61608". The London Gazette (Supplement). 2016-06-11. p. B2.
  17. ↑ Anon (2016). "Birthday honours: Mitochondrial disease doctor recognised". bbc.co.uk. London: BBC News.
  18. ↑ Mark Henderson (2015). "Three-person embryos: how the mitochondrial donation battle was won. Prof Doug Turnbull successfully communicated difficult and controversial research with scientific accuracy, but in simple terms". The Guardian . London. Archived from the original on 2016-02-05.
  19. ↑ James Gallagher (2015). "Three-person babies - not three-parent babies". bbc.co.uk. London: BBC News. Archived from the original on 2016-03-02.
  20. ↑ "Buchanan Medallist 2020". Royal Society. Archived from the original on 23 October 2019. Retrieved 18 August 2020.
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