ArticleScientific reports2020
Systemic lipid dysregulation is a risk factor for macular neurodegenerative disease.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 39 citations in OpenAlex.
- Macular telangiectasia type 2: An update.The Journal of international medical research · 2026Review
- Is Macular Telangiectasia Type 2 Associated with Hearing Loss and Cochlear Dysfunction? A Prospective Case-Control Study.Diagnostics (Basel, Switzerland) · 2026Article
- Lysine myristoylation mediates long-term potentiation via membrane enrichment of synaptic plasticity effectors.The EMBO journal · 2025Article
- Genetic Background of Macular Telangiectasia Type 2.International journal of molecular sciences · 2025Review
- Macular telangiectasia type 2 in a patient with Down syndrome: A possible association.American journal of ophthalmology case reports · 2024Article
- ASCT2 is a major contributor to serine uptake in cancer cells.Cell reports · 2024Article
- High-throughput ultrastructural analysis of macular telangiectasia type 2.Frontiers in ophthalmology · 2024Article
- Unraveling the mysteries of macular telangiectasia 2: the intersection of philanthropy, multimodal imaging and molecular genetics. The 2022 founders lecture of the pan American vitreoretinal society.International journal of retina and vitreous · 2023Review
- ASCT2 is the primary serine transporter in cancer cells.bioRxiv : the preprint server for biology · 2023Article
- Metabolomic Signatures Associated with Radiation-Induced Lung Injury by Correlating Lung Tissue to Plasma in a Rat Model.Metabolites · 2023Article
- iPSC-derived retinal pigmented epithelial cells from patients with macular telangiectasia show decreased mitochondrial function.The Journal of clinical investigation · 2023Article
- Article
- New insight of metabolomics in ocular diseases in the context of 3P medicine.The EPMA journal · 2023Review
- Spatial distribution of metabolites in the retina and its relevance to studies of metabolic retinal disorders.Metabolomics : Official journal of the Metabolomic Society · 2023Article
- Ciliary neurotrophic factor-mediated neuroprotection involves enhanced glycolysis and anabolism in degenerating mouse retinas.Nature communications · 2022Article
- Cell-specific cis-regulatory elements and mechanisms of non-coding genetic disease in human retina and retinal organoids.Developmental cell · 2022Article
- Association between abnormal plasma metabolism and brain atrophy in alcohol-dependent patients.Frontiers in molecular neuroscience · 2022Article
- Metabolomics Analyses of Mouse Retinas in Oxygen-Induced Retinopathy.Investigative ophthalmology & visual science · 2021Article
- Phgdh serves a protective role in Il‑1β induced chondrocyte inflammation and oxidative‑stress damage.Molecular medicine reports · 2021Article
- The Aging Stress Response and Its Implication for AMD Pathogenesis.International journal of molecular sciences · 2020Review
Corrections and comments
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Authors and funding
11 authors at 8 institutions in 3 countries.
Funding
Abstract
Macular Telangiectasia type 2 (MacTel) is an uncommon bilateral retinal disease, in which glial cell and photoreceptor degeneration leads to central vision loss. The causative disease mechanism is largely unknown, and no treatment is currently available. A previous study found variants in genes associated with glycine-serine metabolism (PSPH, PHGDH and CPS1) to be associated with MacTel, and showed low levels of glycine and serine in the serum of MacTel patients. Recently, a causative role of deoxysphingolipids in MacTel disease has been established. However, little is known about possible other metabolic dysregulation. Here we used a global metabolomics platform in a case-control study to comprehensively profile serum from 60 MacTel patients and 58 controls. Analysis of the data, using innovative computational approaches, revealed a detailed, disease-associated metabolic profile with broad changes in multiple metabolic pathways. This included alterations in the levels of several metabolites that are directly or indirectly linked to glycine-serine metabolism, further validating our previous genetic findings. We also found changes unrelated to PSPH, PHGDH and CPS1 activity. Most pronounced, levels of several lipid groups were altered, with increased phosphatidylethanolamines being the most affected lipid group. Assessing correlations between different metabolites across our samples revealed putative functional connections. Correlations between phosphatidylethanolamines and sphingomyelin, and glycine-serine and sphingomyelin, observed in controls, were reduced in MacTel patients, suggesting metabolic re-wiring of sphingomyelin metabolism in MacTel patients. Our findings provide novel insights into metabolic changes associated with MacTel and implicate altered lipid metabolism as a contributor to this retinal neurodegenerative disease.
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Registered trials
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