ArticleHuman molecular genetics2021
A plasma metabolomic signature of Leber hereditary optic neuropathy showing taurine and nicotinamide deficiencies.
Article in Human molecular genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 22 citations in OpenAlex.
- MetabOCT: a clinical trial looking for a metabolomic signature predicting the onset of Leber's hereditary optic neuropathy in healthy MtDNA mutations carriers.Metabolomics : Official journal of the Metabolomic Society · 2025Article
- Nitric Oxide May Adversely Affect the Metabolism and Viability of Retinal Organoids Derived from Patients with Leber Hereditary Optic Neuropathy.The American journal of pathology · 2025Article
- Do Sex and Gender Interact with the Biological Actions of Taurine? A Critical Rereading of the Literature.International journal of molecular sciences · 2025Review
- Therapeutic Effects of Anti-Inflammatory and Anti-Oxidant Nutritional Supplementation in Retinal Ischemic Diseases.International journal of molecular sciences · 2024Review
- Mitochondrial Biomarkers in the Omics Era: A Clinical-Pathophysiological Perspective.International journal of molecular sciences · 2024Review
- Letter to the editor on: prophylactic nicotinamide treatment protects from rotenone-induced neurodegeneration by increasing mitochondrial content and volume.Acta neuropathologica communications · 2024Article
- Applications of artificial intelligence and bioinformatics methodologies in the analysis of ocular biofluid markers: a scoping review.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2024Article
- The Optic Nerve at Stake: Update on Environmental Factors Modulating Expression of Leber's Hereditary Optic Neuropathy.Biomedicines · 2024Review
- Taurine: a promising nutraceutic in the prevention of retinal degeneration.Neural regeneration research · 2024Review
- Distinctive metabolic remodeling in TYMP deficiency beyond mitochondrial dysfunction.Journal of molecular medicine (Berlin, Germany) · 2023Article
- Metabolomic profiling of a neurodegenerative retina following optic nerve transection.Molecular medicine reports · 2023Article
- Altered Urinary Metabolomics in Hereditary Angioedema.Metabolites · 2022Article
- An Integrated Strategy for Rapid Discovery and Identification of Quality Markers in Gardenia Fructus Using an Omics Discrimination-Grey Correlation-Biological Verification Method.Frontiers in pharmacology · 2021Article
- Jintiange Capsule Alleviates Rheumatoid Arthritis and Reverses Changes of Serum Metabolic Profile in Collagen-Induced Arthritic Rats.Journal of inflammation research · 2021Article
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Authors and funding
14 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Leber's hereditary optic neuropathy (LHON) is the most common disorder due to mitochondrial DNA mutations and complex I deficiency. It is characterized by an acute vision loss, generally in young adults, with a higher penetrance in males. How complex I dysfunction induces the peculiar LHON clinical presentation remains an unanswered question. To gain an insight into this question, we carried out a non-targeted metabolomic investigation using the plasma of 18 LHON patients, during the chronic phase of the disease, comparing them to 18 healthy controls. A total of 500 metabolites were screened of which 156 were accurately detected. A supervised Orthogonal Partial Least Squares-Discriminant Analysis (OPLS-DA) highlighted a robust model for disease prediction with a Q2 (cum) of 55.5%, with a reliable performance during the permutation test (cross-validation analysis of variance, P-value = 5.02284e-05) and a good prediction of a test set (P = 0.05). This model highlighted 10 metabolites with variable importance in the projection (VIP) > 0.8. Univariate analyses revealed nine discriminating metabolites, six of which were the same as those found in the Orthogonal Projections to Latent Structures Discriminant Analysis model. In total, the 13 discriminating metabolites identified underlining dietary metabolites (nicotinamide, taurine, choline, 1-methylhistidine and hippurate), mitochondrial energetic substrates (acetoacetate, glutamate and fumarate) and purine metabolism (inosine). The decreased concentration of taurine and nicotinamide (vitamin B3) suggest interesting therapeutic targets, given their neuroprotective roles that have already been demonstrated for retinal ganglion cells. Our results show a reliable predictive metabolomic signature in the plasma of LHON patients and highlighted taurine and nicotinamide deficiencies.
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