ArticleThe Journal of clinical investigation2021
DNAJC30 biallelic mutations extend mitochondrial complex I-deficient phenotypes to include recessive Leber's hereditary optic neuropathy.
Article in The Journal of clinical investigation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 20 citations in OpenAlex.
- Article
- Sex Distributions in the Most Frequent Autosomal Genetic Causes of Retinitis Pigmentosa.Investigative ophthalmology & visual science · 2025Article
- Evaluation of Visual and Optical Coherence Tomography Outcomes in Patients with Leber's Hereditary Optic Neuropathy Treated with Idebenone.Life (Basel, Switzerland) · 2025Article
- Revisiting the Role of Mitochondrial DNA Mutations in Aging: Bridging Theoretical Expectations with Empirical Observations.Aging and disease · 2025Review
- Mitochondrial reprogramming by activating OXPHOS via glutamine metabolism in African American patients with bladder cancer.JCI insight · 2024Article
- Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome.Journal of neurology · 2023Article
- Optic Nerve Structural and Functional Changes in LHON-Affected and Asymptomatic Maternal Relatives: Association with H and HV Mitochondrial Haplogroups.International journal of molecular sciences · 2023Article
- Case report: Mutations inFrontiers in neurology · 2023Article
- Relative Leukocyte Telomere Length and Telomerase Complex Regulatory Markers Association with Leber's Hereditary Optic Neuropathy.Medicina (Kaunas, Lithuania) · 2022Article
- Mitochondrial Neurodegeneration.Cells · 2022Review
- Multi-mtDNA Variants May Be a Factor Contributing to Mitochondrial Function Variety in the Skin-Derived Fibroblasts of Leber's Hereditary Optic Neuropathy Patients.Frontiers in molecular neuroscience · 2022Article
- Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants.Frontiers in neurology · 2021Article
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Abstract
Leber's hereditary optic neuropathy (LHON) is the most common mitochondrial disease and in most cases is caused by mutations in mitochondrial DNA-encoded (mtDNA-encoded) respiratory complex I subunit ND1, ND4, or ND6. In this issue of the JCI, Stenton et al. describe biallelic mutations in a nuclear DNA-encoded gene, DNAJC30, establishing recessively inherited LHON (arLHON). Functional studies suggest that DNAJC30 is a protein chaperone required for exchange of damaged complex I subunits. Hallmark mtDNA LHON features were also found in arLHON, including incomplete penetrance, male predominance, and positive response to idebenone therapy. These results extend complex I-deficient phenotypes to include recessively inherited optic neuropathy, with important clinical implications for genetic counseling and therapeutic considerations.
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