Oral Presentation International Congress on Neuronal Ceroid Lipofuscinoses 2025

Urinary Glycerophosphoinositol is a potentially non-invasive clinically applicable biomarker for CLN3 disease (126468)

Wendy E Heywood 1 , Ivan Doykov 1 , Katy Vecchiato 2 , Philippa Mills 1 , Paul Gissen 1 2 , Sara Mole 1
  1. University College London, London, LONDON, United Kingdom
  2. Metabolic Unit, Great Ormond Street Hospital, London, UK
Publish consent withheld
  1. [1] Laqtom NN, Dong W, Medoh UN, Cangelosi AL, Dharamdasani V, Chan SH, Kunchok T, Lewis CA, Heinze I, Tang R, Grimm C, Dang Do AN, Porter FD, Ori A, Sabatini DM, Abu-Remaileh M. CLN3 is required for the clearance of glycerophosphodiesters from lysosomes. Nature. 2022 Sep;609(7929):1005-1011. doi: 10.1038/s41586-022-05221-y. Epub 2022 Sep 21. PMID: 36131016; PMCID: PMC10510443.
  2. [2] Nyame K, Hims A, Aburous A, Laqtom NN, Dong W, Medoh UN, Heiby JC, Xiong J, Ori A, Abu-Remaileh M. Glycerophosphodiesters inhibit lysosomal phospholipid catabolism in Batten disease. Mol Cell. 2024 Apr 4;84(7):1354-1364.e9. doi: 10.1016/j.molcel.2024.02.006. Epub 2024 Mar 5. PMID: 38447580; PMCID: PMC10999246.
  3. [3] Brudvig JJ, Swier VJ, Johnson TB, Cain JC, Pratt M, Rechtzigel M, Leppert H, Dang Do AN, Porter FD, Weimer JM. Glycerophosphoinositol is elevated in blood samples from CLN3Δex7-8 pigs, Cln3Δex7-8 mice, and CLN3-affected individuals. Biomark Insights. 2022 Jun 19;17:11772719221107765. doi: 10.1177/11772719221107765. PMID: 36212622; PMCID: PMC9535353.