ArticleHuman gene therapy2012
Mitochondrial gene therapy improves respiration, biogenesis, and transcription in G11778A Leber's hereditary optic neuropathy and T8993G Leigh's syndrome cells.
Article in Human gene therapy, 2012. 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
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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.
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Who cites it
22 citing papers in PubMed, 52 citations in OpenAlex.
- Engineered mitochondria in diseases: mechanisms, strategies, and applications.Signal transduction and targeted therapy · 2025Review
- New insights on mitochondrial heteroplasmy observed in ovarian diseases.Journal of advanced research · 2024Review
- The mechanisms of natural products for eye disorders by targeting mitochondrial dysfunction.Frontiers in pharmacology · 2024Review
- Mitochondrial DNA copy number variation and gene mutations mediate polycystic ovary syndrome: research progress.American journal of translational research · 2024Review
- Human iPSC-derived cerebral organoids model features of Leigh syndrome and reveal abnormal corticogenesis.Development (Cambridge, England) · 2022Article
- Article
- Evaluating the Bioenergetics Health Index Ratio in Leigh Syndrome Fibroblasts to Understand Disease Severity.International journal of molecular sciences · 2021Article
- Utilization of Human Samples for Assessment of Mitochondrial Bioenergetics: Gold Standards, Limitations, and Future Perspectives.Life (Basel, Switzerland) · 2021Review
- Regulation of neuronal bioenergetics as a therapeutic strategy in neurodegenerative diseases.Neural regeneration research · 2021Article
- Leigh Syndrome: A Tale of Two Genomes.Frontiers in physiology · 2021Review
- mRNA Reprogramming of T8993G Leigh's Syndrome Fibroblast Cells to Create Induced Pluripotent Stem Cell Models for Mitochondrial Disorders.Stem cells and development · 2019Article
- Modulation of mitochondrial bioenergetics as a therapeutic strategy in Alzheimer's disease.Neural regeneration research · 2018Review
- Arts, Science, Engineering and Medicine Collaborate to Educate Public on Bioenergetics.Research reports (Montgomery) · 2017Article
- Is there treatment for Leber hereditary optic neuropathy?Current opinion in ophthalmology · 2015Review
- Stem cells, neural progenitors, and engineered stem cells.Methods in molecular biology (Clifton, N.J.) · 2015Article
- Leber hereditary optic neuropathy: current perspectives.Clinical ophthalmology (Auckland, N.Z.) · 2015Review
- Treatment strategies for inherited optic neuropathies: past, present and future.Eye (London, England) · 2014Review
- The optic nerve: a "mito-window" on mitochondrial neurodegeneration.Molecular and cellular neurosciences · 2013Review
- Pharmacological approaches to restore mitochondrial function.Nature reviews. Drug discovery · 2013Review
- Novel therapeutic approaches for Leber's hereditary optic neuropathy.Discovery medicine · 2013Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
Many incurable mitochondrial disorders result from mutant mitochondrial DNA (mtDNA) and impaired respiration. Leigh's syndrome (LS) is a fatal neurodegenerative disorder of infants, and Leber's hereditary optic neuropathy (LHON) causes blindness in young adults. Treatment of LHON and LS cells harboring G11778A and T8993G mutant mtDNA, respectively, by >90%, with healthy donor mtDNA complexed with recombinant human mitochondrial transcription factor A (rhTFAM), improved mitochondrial respiration by ∼1.2-fold in LHON cells and restored >50% ATP synthase function in LS cells. Mitochondrial replication, transcription, and translation of key respiratory genes and proteins were increased in the short term. Increased NRF1, TFAMB1, and TFAMA expression alluded to the activation of mitochondrial biogenesis as a mechanism for improving mitochondrial respiration. These results represent the development of a therapeutic approach for LHON and LS patients in the near future.
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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.