ReviewHuman molecular genetics2011
Mitochondrial DNA disease: new options for prevention.
Review in Human molecular genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed, 77 citations in OpenAlex.
- Current state of the art in the transmission of mitochondrial DNA pathogenic variants: reviewing preventive-therapeutic alternatives.Journal of assisted reproduction and genetics · 2026Review
- Mitochondrial DNA disorders: from pathogenic variants to preventing transmission.Human molecular genetics · 2021Review
- Leber hereditary optic neuropathy-new insights and old challenges.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2021Review
- Mitochondrial DNA Replacement Techniques to Prevent Human Mitochondrial Diseases.International journal of molecular sciences · 2021Review
- Three-parent babies: Mitochondrial replacement therapies.JBRA assisted reproduction · 2020Review
- Overcoming bioethical, legal, and hereditary barriers to mitochondrial replacement therapy in the USA.Journal of assisted reproduction and genetics · 2019Article
- Inherited eye-related disorders due to mitochondrial dysfunction.Human molecular genetics · 2017Review
- Mitochondrial transfer: Implications for assisted reproductive technologies.Applied & translational genomics · 2016Review
- Genetic manipulation for inherited neurodegenerative diseases: myth or reality?The British journal of ophthalmology · 2016Review
- A Deafness- and Diabetes-associated tRNA Mutation Causes Deficient Pseudouridinylation at Position 55 in tRNAGlu and Mitochondrial Dysfunction.The Journal of biological chemistry · 2016Article
- Mitochondrial genetic analysis in a Chinese family suffering from both mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes and diabetes.International journal of clinical and experimental pathology · 2015Article
- Mitochondrial DNA disease and developmental implications for reproductive strategies.Molecular human reproduction · 2015Review
- Long survival in patients with leigh syndrome and the m.10191T>C mutation in MT-ND3 : a case report and review of the literature.Journal of child neurology · 2014Review
- MtDNA segregation in heteroplasmic tissues is common in vivo and modulated by haplotype differences and developmental stage.Cell reports · 2014Article
- Treatment strategies for inherited optic neuropathies: past, present and future.Eye (London, England) · 2014Review
- Regulation of mitochondrial genome inheritance by autophagy and ubiquitin-proteasome system: implications for health, fitness, and fertility.BioMed research international · 2014Review
- The clinical maze of mitochondrial neurology.Nature reviews. Neurology · 2013Review
- Article
- Preventing the transmission of pathogenic mitochondrial DNA mutations: Can we achieve long-term benefits from germ-line gene transfer?Human reproduction (Oxford, England) · 2013Article
- Mitochondrial DNA heteroplasmy in diabetes and normal adults: role of acquired and inherited mutational patterns in twins.Human molecular genetics · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
Very recently, two papers have presented intriguing data suggesting that prevention of transmission of human mitochondrial DNA (mtDNA) disease is possible. [Craven, L., Tuppen, H.A., Greggains, G.D., Harbottle, S.J., Murphy, J.L., Cree, L.M., Murdoch, A.P., Chinnery, P.F., Taylor, R.W., Lightowlers, R.N. et al. (2010) Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease. Nature, 465, 82-85. Tachibana, M., Sparman, M., Sritanaudomchai, H., Ma, H., Clepper, L., Woodward, J., Li, Y., Ramsey, C., Kolotushkina, O. and Mitalipov, S. (2009) Mitochondrial gene replacement in primate offspring and embryonic stem cells. Nature, 461, 367-372.] These recent advances raise hopes for families with mtDNA disease; however, the successful translational of these techniques to clinical practice will require further research to test for safety and to maximize efficacy. Furthermore, in the UK, amendment to the current legislation will be required. Here, we discuss the clinical and scientific background, studies we believe are important to establish safety and efficacy of the techniques and some of the potential concerns about the use of these approaches.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.