Acylcarnitine abnormalities implicate mitochondrial dysfunction in patients with neovascular age-related macular degeneration

Gerald Liew*, Benita Tse, I. Van Ho, Nichole Joachim, Andrew White, Russell Pickford, David Maltby, Bamini Gopinath, Paul Mitchell, Ben Crossett

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)
44 Downloads (Pure)


PURPOSE. Abnormalities in lipid metabolism are implicated in age-related macular degeneration (AMD), but the pathways involved remain unclear. We assessed whether acylcarnitine concentrations, a marker of lipid and mitochondrial metabolism, differed between patients with AMD and controls. METHODS. In this cross-sectional case-control study, cases (n = 81) had neovascular AMD and controls (n = 79) had cataract with no other ocular pathology. Participants were recruited from eye clinics in Western Sydney, Australia, between 2016 and 2018. Plasma blood samples were collected and liquid chromatography mass spectrometry analyses performed to identify acylcarnitine concentrations. Acylcarnitine levels were adjusted for age, gender and smoking in multivariable models. Confirmation of key acylcarnitine identities was conducted using high mass accuracy liquid chromatography-tandem mass spectrometry. RESULTS. After multivariable adjustment, C2-carnitine (acetylcarnitine) levels were significantly lower in patients with neovascular AMD compared to controls (0.810 ± 0.053 (standard error) compared to 1.060 ± 0.053), p = 0.002). C18:2-DC carnitine (a dicarboxylic acylcarnitine with a 18 carbon side chain and 2 double bonds), levels were significantly higher in patients with neovascular AMD compared to controls (1.244 ± 0.046 compared to 1.013 ± 0.046), p = 0.001). Other acylcarnitines examined were not significantly different between cases and controls. CONCLUSIONS. Reduced plasma levels of C2-carnitine (acetylcarnitine) and increased plasma levels of C18:2-DC carnitine were observed in patients with neovascular AMD compared to controls. These findings suggest mitochondrial dysfunction could be involved in the pathogenesis of neovascular AMD.

Original languageEnglish
Article number32
Pages (from-to)1-7
Number of pages7
JournalInvestigative Ophthalmology and Visual Science
Issue number8
Publication statusPublished - Jul 2020
Externally publishedYes

Bibliographical note

Copyright the Author(s) 2020. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.


  • macular degeneration
  • acylcarnitines
  • mitochondria


Dive into the research topics of 'Acylcarnitine abnormalities implicate mitochondrial dysfunction in patients with neovascular age-related macular degeneration'. Together they form a unique fingerprint.

Cite this