ReviewJournal of human genetics2019
Recent topics: the diagnosis, molecular genesis, and treatment of mitochondrial diseases.
Review in Journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 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.
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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
33 citing papers in PubMed, 51 citations in OpenAlex.
- A Four-Year Prospective Pilot Study of Newborn Screening for Late-Onset Proximal Urea-Cycle Disorders in Hyogo Prefecture in Japan.International journal of neonatal screening · 2026Article
- Fontaine progeroid syndrome with neonatal mitochondrial disease.Human genome variation · 2025Article
- Comprehensive review of mitochondrial nephropathy-a renal phenotype in mitochondrial disease: causative genes, clinical and pathological features, diagnosis, prognosis, and treatment.Clinical and experimental nephrology · 2025Review
- A novel mutation inHeliyon · 2024Article
- 5-Aminolevulinic acid bypasses mitochondrial complex I deficiency and corrects physiological dysfunctions in Drosophila.Human molecular genetics · 2023Article
- Acute Encephalopathy Caused by Inherited Metabolic Diseases.Journal of clinical medicine · 2023Review
- Mitochondria in human reproduction: novel paradigm in the onset of neurodegenerative disorders.Physiological research · 2023Review
- Tom40 in cholesterol transport.iScience · 2023Article
- Hacd2 deficiency in mice leads to an early and lethal mitochondrial disease.Molecular metabolism · 2023Article
- Insulin Resistance in Mitochondrial Diabetes.Biomolecules · 2023Review
- Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochromeFrontiers in cellular neuroscience · 2023Article
- Stimulating Mitochondrial Biogenesis with Deoxyribonucleosides Increases Functional Capacity in ECHS1-Deficient Cells.International journal of molecular sciences · 2022Article
- Skeletal muscle undergoes fiber type metabolic switch without myosin heavy chain switch in response to defective fatty acid oxidation.Molecular metabolism · 2022Article
- Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis.Archives of disease in childhood. Fetal and neonatal edition · 2022Observational
- Article
- BCS1L mutations produce Fanconi syndrome with developmental disability.Journal of human genetics · 2022Article
- Hemodynamic Collapse Caused by Cardiac Dysfunction and Abdominal Compartment Syndrome in a Patient with Mitochondrial Disease.Internal medicine (Tokyo, Japan) · 2022Article
- Metabolic impact of pathogenic variants in the mitochondrial glutamyl-tRNA synthetase EARS2.Journal of inherited metabolic disease · 2021Article
- Mitochondrial DNA Copy Number and Developmental Origins of Health and Disease (DOHaD).International journal of molecular sciences · 2021Review
- Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.Scientific reports · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
Mitochondrial diseases are inherited metabolic diseases based on disorders of energy production. The expansion of exome analyses has led to the discovery of many pathogenic nuclear genes associated with these diseases, and research into the pathogenesis of metabolic diseases has progressed. In cases of Leigh syndrome, it is desirable to perform both biochemical and genetic analyses, and pathogenic gene mutations have been identified in over half of the cases analyzed this way. Tandem mass screening and organic acid analyses of urine can sometimes provide important information that leads to the identification of pathogenic genes. Our comprehensive gene analyses have led to the discovery of several novel genes for mitochondrial diseases. Indeed, we reported that GTPBP3 and QRSL1 are involved in mitochondrial DNA maturation. In 2017, as a result of international collaboration, we also identified that mutations in ATAD3 and C1QBP cause mitochondrial disease. Given the varied pathogeneses, treatments for mitochondrial diseases should be specifically tailored to the mutated gene. Clinical trials of sodium pyruvate, 5-aminolevulinic acid with sodium ferrous citrate, and taurine as a treatment for mitochondrial disease have begun in Japan. Given that some mitochondrial diseases may respond well to certain treatments if the pathogenic gene can be identified, an early genetic diagnosis is crucial. Additionally, in Japan, prenatal diagnoses for mitochondrial diseases caused by nuclear genes have been achieved for genes shown to be pathogenic. Treatment and management approaches, including prenatal diagnoses, specifically tailored to the various phenotypes and pathologies of mitochondrial diseases are expected to become increasingly available.
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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.