ReviewItalian journal of pediatrics2014
Syndromes associated with mitochondrial DNA depletion.
Review in Italian journal of pediatrics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04802707 (A Phase II, Monocenter, Single Arm Study To Assess The Safety and Efficacy Of Combination Deoxycytidine and Deoxythymidine For Mitochondrial Depletion Disorders), which is not on this map. Cited by 28 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.
A Phase II, Monocenter, Single Arm Study To Assess The Safety and Efficacy Of Combination Deoxycytidine and Deoxythymidine For Mitochondrial Depletion Disorders
Who cites it
28 citing papers in PubMed, 52 citations in OpenAlex.
- Living donor liver transplantation in a pediatric patient with mitochondrial DNA depletion syndrome caused by two novelTranslational pediatrics · 2026Article
- DCTPP1 orchestrates dCTP pool dynamics and mtDNA stability in quiescent cells.Cell death & disease · 2026Article
- Genetic dissection of Huntington's disease modification by variation at RRM2B.Human molecular genetics · 2025Article
- Zebrafish polg2 knock-out recapitulates human POLG-disorders; implications for drug treatment.Cell death & disease · 2024Article
- Editorial: Movement disorders in neurometabolic conditions.Frontiers in neurology · 2024Article
- Uncovering the prominent role of satellite cells in paravertebral muscle development and aging by single-nucleus RNA sequencing.Genes & diseases · 2023Article
- Parkinson's Disease, Parkinsonisms, and Mitochondria: the Role of Nuclear and Mitochondrial DNA.Current neurology and neuroscience reports · 2023Review
- Mapping mitonuclear epistasis using a novel recombinant yeast population.PLoS genetics · 2023Article
- Article
- PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Mitochondrial DNA Depletion Syndrome and Its Associated Cardiac Disease.Frontiers in cardiovascular medicine · 2021Review
- Mitochondrial DNA Depletion in Granulosa Cell Derived Nuclear Transfer Tissues.Frontiers in cell and developmental biology · 2021Article
- High expression of theJournal of gastrointestinal oncology · 2020Article
- Long Noncoding RNA OIP5-AS1 Promotes Cell Apoptosis and Cataract Formation by Blocking POLG Expression Under Oxidative StressInvestigative ophthalmology & visual science · 2020Article
- Progressive cavitating leukoencephalopathy associated with a homozygousRadiology case reports · 2020Article
- Mutation ofFrontiers in cell and developmental biology · 2020Article
- MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.Acta neuropathologica · 2019Article
- Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report.BMC medical genetics · 2019Article
- Role of Mitochondrial DNA Damage in ROS-Mediated Pathogenesis of Age-Related Macular Degeneration (AMD).International journal of molecular sciences · 2019Review
- The zebrafish orthologue of the human hepatocerebral disease geneDisease models & mechanisms · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mitochondrial dysfunction accounts for a large group of inherited metabolic disorders most of which are due to a dysfunctional mitochondrial respiratory chain (MRC) and, consequently, deficient energy production. MRC function depends on the coordinated expression of both nuclear (nDNA) and mitochondrial (mtDNA) genomes. Thus, mitochondrial diseases can be caused by genetic defects in either the mitochondrial or the nuclear genome, or in the cross-talk between the two. This impaired cross-talk gives rise to so-called nuclear-mitochondrial intergenomic communication disorders, which result in loss or instability of the mitochondrial genome and, in turn, impaired maintenance of qualitative and quantitative mtDNA integrity. In children, most MRC disorders are associated with nuclear gene defects rather than alterations in the mtDNA itself.The mitochondrial DNA depletion syndromes (MDSs) are a clinically heterogeneous group of disorders with an autosomal recessive pattern of transmission that have onset in infancy or early childhood and are characterized by a reduced number of copies of mtDNA in affected tissues and organs. The MDSs can be divided into least four clinical presentations: hepatocerebral, myopathic, encephalomyopathic and neurogastrointestinal. The focus of this review is to offer an overview of these syndromes, listing the clinical phenotypes, together with their relative frequency, mutational spectrum, and possible insights for improving diagnostic strategies.
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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.