The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Prevalence of mitochondrial DNA disease in adults
Abstract
Objective: Diverse and variable clinical features, a loose genotype–phenotype relationship, and presentation to different medical specialties have all hindered attempts to gauge the epidemiological impact of mitochondrial DNA (mtDNA) disease. Nevertheless, a clear understanding of its prevalence remains an important goal, particularly about planning appropriate clinical services. Consequently, the aim of this study was to accurately define the prevalence of mtDNA disease (primary mutation occurs in mtDNA) in the working‐age population of the North East of England. Methods: Adults with suspected mitochondrial disease in the North East of England were referred to a single neurology center for investigation from 1990 to 2004. Those with pathogenic mtDNA mutations were identified and pedigree analysis performed. For the midyear period of 2001, we calculated the minimum point prevalence of mtDNA disease for adults of working age (>16 and <60/65 years for female/male patients, respectively). Results: In this population, we found that 9.2 in 100,000 people have clinically manifest mtDNA disease, making this one of the commonest inherited neuromuscular disorders. In addition, a further 16.5 in 100,000 children and adults younger than retirement age are at risk for development of mtDNA disease. Interpretation: Through detailed pedigree analysis and active family tracing, we have been able to provide revised minimum prevalence figures for mtDNA disease. These estimates confirm that mtDNA disease is a common cause of chronic morbidity and is more prevalent than has been previously appreciated. Ann Neurol 2007
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
mtDNA mutations accumulate with age and accompany a progressive decline in organelle function.
“mtDNA mutations also accumulate with age and accompany a progressive decline in organelle function [4].”
From Codon optimization is an essential parameter for the efficient allotopic expression of mtDNA genes (2020) · cites this paper as [4]
Citations
Cites
Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy
Wallace, D. C., Singh, G., Lott, M. T., Hodge, J. A., Schurr, T. G., Lezza, A. M. S., Elsas, L. J., & Nikoskelainen, E. K. (1988) · Science · doi:10.1126/science.3201231 · Cited by 2,440
A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA.
Kadowaki, T., Kadowaki, H., Mori, Y., Tobe, K., Sakuta, R., Suzuki, Y., Tanabe, Y., Sakura, H., Awata, T., Goto, Y.-I., et al. (1994) · New England Journal of Medicine · doi:10.1056/nejm199404073301403 · Cited by 551
Flagged first, then by citations
Research works printed but not linked: 25
- 10.1038/331717a0 · DOI
- 10.1002/1531-8249(200008)48:2<188::AID-ANA8>3.0.CO;2-P · DOI
- Office for National Statistics, 2004, 2001 census key statistics (England and Wales)
- 10.1038/sj.ejhg.5201216 · DOI
- 10.1016/j.nmd.2003.12.004 · DOI
- 10.1016/S1474-4422(02)00159-X · DOI
- 10.1002/mus.880181433 · DOI
- 10.1136/jmg.39.3.162 · DOI · Paper page
- 10.1016/0140-6736(92)92560-3 · DOI
- Hanna MG, 1995, Congenital encephalomyopathy and adult‐onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation, Am J Hum Genet, 56, 1026
- Hao H, 1995, Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus, Am J Hum Genet, 56, 1017
- 10.1056/NEJM199909303411404 · DOI
- 10.1016/S0140-6736(04)16851-7 · DOI
- Mackey DA, 1992, Leber hereditary optic neuropathy in Australia, Aust N Z J Med, 20, 177
- 10.1002/(SICI)1096-9136(199706)14:6<457::AID-DIA372>3.0.CO;2-W · DOI
- 10.1210/jc.79.3.768 · DOI
- 10.1210/jc.80.4.1290 · DOI
- 10.1007/s001250050357 · DOI
- 10.1001/archneur.1987.00520170009012 · DOI
- 10.1086/301959 · DOI
- 10.1002/(SICI)1096-8628(19990827)85:5<498::AID-AJMG13>3.0.CO;2-8 · DOI
- 10.1093/brain/120.10.1713 · DOI
- 10.1093/brain/awh259 · DOI
- 10.1038/ng1765 · DOI · Paper page
- 10.1038/ng0607-703 · DOI
Cited by
Sorted by citations
Human mitochondrial DNA: roles of inherited and somatic mutations
Schon, E. A., DiMauro, S., & Hirano, M. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3275 · Cited by 757
Mitochondrial DNA mutations and human disease
Tuppen, H. A. L., Blakely, E. L., Turnbull, D. M., & Taylor, R. W. (2010) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2009.09.005 · Cited by 676
“Estimates from the North East of England suggest that as many as 1 in 10,000 people have clinically manifesting mtDNA disease with a further 1 in 6000 at risk [58].”
BackgroundSelf-citationMitochondrial optic neuropathies—Disease mechanisms and therapeutic strategies
Yu-Wai-Man, P., Griffiths, P. G., & Chinnery, P. F. (2011) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2010.11.002 · Cited by 633
Self-citationA mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations
Fan, W., Waymire, K. G., Narula, N., Li, P., Rocher, C., Coskun, P. E., Vannan, M. A., Narula, J., MacGregor, G. R., & Wallace, D. C. (2008) · Science · doi:10.1126/science.1147786 · Cited by 466
Suomalainen, A., Elo, J. M., Pietiläinen, K. H., Hakonen, A. H., Sevastianova, K., Korpela, M., Isohanni, P., Marjavaara, S. K., Tyni, T., Kiuru-Enari, S., et al. (2011) · The Lancet Neurology · doi:10.1016/s1474-4422(11)70155-7 · Cited by 427
Wenz, T., Diaz, F., Spiegelman, B. M., & Moraes, C. T. (2008) · Cell Metabolism · doi:10.1016/j.cmet.2008.07.006 · Cited by 297
RetractedArtificial Mitochondria Transfer: Current Challenges, Advances, and Future Applications
Caicedo, A., Aponte, P. M., Cabrera, F., Hidalgo, C., & Khoury, M. (2017) · Stem Cells International · doi:10.1155/2017/7610414 · Cited by 150
Goffart, S., Cooper, H. M., Tyynismaa, H., Wanrooij, S., Suomalainen, A., & Spelbrink, J. N. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddn359 · Cited by 138
Bonnet, C., Augustin, S., Ellouze, S., Bénit, P., Bouaita, A., Rustin, P., Sahel, J.-A., & Corral-Debrinski, M. (2008) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2008.04.018 · Cited by 130
Cwerman-Thibault, H., Augustin, S., Lechauve, C., Ayache, J., Ellouze, S., Sahel, J.-A., & Corral-Debrinski, M. (2015) · Molecular Therapy - Methods & Clinical Development · doi:10.1038/mtm.2015.3 · Cited by 86
The Psychiatric Presentation of Mitochondrial Disorders in Adults
Anglin, R. E., Tarnopolsky, M. A., Mazurek, M. F., & Rosebush, P. I. (2012) · The Journal of Neuropsychiatry and Clinical Neurosciences · doi:10.1176/appi.neuropsych.11110345 · Cited by 77
Endurance exercise is protective for mice with mitochondrial myopathy
Wenz, T., Diaz, F., Hernandez, D., & Moraes, C. T. (2009) · Journal of Applied Physiology · doi:10.1152/japplphysiol.91571.2008 · Cited by 78
RetractedPark, H., Davidson, E., & King, M. P. (2008) · RNA · doi:10.1261/rna.1208808 · Cited by 58
Sleep disorders associated with primary mitochondrial diseases
Ramezani, R. J., & Stacpoole, P. W. (2014) · Journal of Clinical Sleep Medicine · doi:10.5664/jcsm.4212 · Cited by 50
Cwerman-Thibault, H., Augustin, S., Ellouze, S., Sahel, J.-A., & Corral-Debrinski, M. (2014) · Comptes Rendus. Biologies · doi:10.1016/j.crvi.2013.11.011 · Cited by 49
Codon optimization is an essential parameter for the efficient allotopic expression of mtDNA genes
Lewis, C. J., Dixit, B., Batiuk, E., Hall, C. J., O'Connor, M. S., & Boominathan, A. (2020) · Redox Biology · doi:10.1016/j.redox.2020.101429 · Cited by 20
Metadata
- Authors
- Schaefer, A. M., McFarland, R., Blakely, E. L., He, L., Whittaker, R. G., Taylor, R. W., Chinnery, P. F., & Turnbull, D. M.
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2007-09-20
- Volume
- 63
- Issue
- 1
- Pages
- 35-39
- ISSN
- 0364-5134
- 1531-8249
- Cited by
- 494
- References
- 2
- Language
- en
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
