دورية أكاديمية
أعرض في EDS

CLN3 deficiency leads to neurological and metabolic perturbations during early development.

التفاصيل البيبلوغرافية
العنوان: CLN3 deficiency leads to neurological and metabolic perturbations during early development.
المؤلفون: Heins-Marroquin U; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg ursula.heins-marroquin@uni.lu., Singh RR; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg.; https://ror.org/00hj8s172 Department of Environmental Health Sciences, Mailman School of Public Health, Columbia University, New York, NY, USA., Perathoner S; Max Planck Institute for Heart and Lung Research, Bad Nauheim, Germany., Gavotto F; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg., Merino Ruiz C; Institut d'Investigació Sanitària Pere Virgili, Tarragona, Spain.; Biosfer Teslab SL, Reus, Spain., Patraskaki M; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg., Gomez-Giro G; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg., Kleine Borgmann F; National Center of Pathology (NCP), Laboratoire national de santé (LNS), Dudelange, Luxembourg.; Department of Oncology (DONC), Luxembourg Institute of Health (LIH), Strassen, Luxembourg., Meyer M; National Center of Pathology (NCP), Laboratoire national de santé (LNS), Dudelange, Luxembourg., Carpentier A; National Center of Pathology (NCP), Laboratoire national de santé (LNS), Dudelange, Luxembourg., Warmoes MO; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg., Jäger C; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg., Mittelbronn M; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg.; National Center of Pathology (NCP), Laboratoire national de santé (LNS), Dudelange, Luxembourg.; Department of Oncology (DONC), Luxembourg Institute of Health (LIH), Strassen, Luxembourg.; Luxembourg Center of Neuropathology (LCNP), Dudelange, Luxembourg.; Faculty of Science, Technology and Medicine (FSTM), University of Luxembourg, Esch-sur-Alzette, Luxembourg.; Department of Life Science and Medicine (DLSM), University of Luxembourg, Esch-sur-Alzette, Luxembourg., Schwamborn JC; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg., Cordero-Maldonado ML; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg., Crawford AD; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg.; Department of Preclinical Sciences and Pathology, Norwegian University of Life Sciences (NMBU), Ås, Norway.; Institute for Orphan Drug Discovery, Bremerhaven, Germany., Schymanski EL; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg., Linster CL; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg carole.linster@uni.lu.
المصدر: Life science alliance [Life Sci Alliance] 2024 Jan 09; Vol. 7 (3). Date of Electronic Publication: 2024 Jan 09 (Print Publication: 2024).
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Life Science Alliance, LLC Country of Publication: United States NLM ID: 101728869 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2575-1077 (Electronic) Linking ISSN: 25751077 NLM ISO Abbreviation: Life Sci Alliance Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [Woodbury, NY] : Life Science Alliance, LLC, [2018]-
مواضيع طبية MeSH: Induced Pluripotent Stem Cells* , Neuronal Ceroid-Lipofuscinoses*/genetics, Animals ; Humans ; Cholesterol Esters ; Membrane Glycoproteins/genetics ; Metabolomics ; Molecular Chaperones ; Zebrafish/genetics
مستخلص: Juvenile neuronal ceroid lipofuscinosis (or Batten disease) is an autosomal recessive, rare neurodegenerative disorder that affects mainly children above the age of 5 yr and is most commonly caused by mutations in the highly conserved CLN3 gene. Here, we generated cln3 morphants and stable mutant lines in zebrafish. Although neither morphant nor mutant cln3 larvae showed any obvious developmental or morphological defects, behavioral phenotyping of the mutant larvae revealed hyposensitivity to abrupt light changes and hypersensitivity to pro-convulsive drugs. Importantly, in-depth metabolomics and lipidomics analyses revealed significant accumulation of several glycerophosphodiesters (GPDs) and cholesteryl esters, and a global decrease in bis(monoacylglycero)phosphate species, two of which (GPDs and bis(monoacylglycero)phosphates) were previously proposed as potential biomarkers for CLN3 disease based on independent studies in other organisms. We could also demonstrate GPD accumulation in human-induced pluripotent stem cell-derived cerebral organoids carrying a pathogenic variant for CLN3 Our models revealed that GPDs accumulate at very early stages of life in the absence of functional CLN3 and highlight glycerophosphoinositol and BMP as promising biomarker candidates for pre-symptomatic CLN3 disease.
(© 2024 Heins-Marroquin et al.)
References: Biotechniques. 2007 Nov;43(5):610, 612, 614. (PMID: 18072590)
BMC Mol Biol. 2008 Nov 12;9:102. (PMID: 19014500)
Nature. 2022 Sep;609(7929):1005-1011. (PMID: 36131016)
Hum Mol Genet. 1998 Jan;7(1):85-90. (PMID: 9384607)
Hum Mol Genet. 2007 Feb 1;16(3):317-26. (PMID: 17189291)
Metabolites. 2020 May 07;10(5):. (PMID: 32392884)
J Vis Exp. 2009 Mar 09;(25):. (PMID: 19274045)
Neurobiol Dis. 1999 Oct;6(5):321-34. (PMID: 10527801)
EBioMedicine. 2023 Jun;92:104628. (PMID: 37245481)
Dis Model Mech. 2015 Apr;8(4):351-61. (PMID: 26035843)
Nat Commun. 2023 Jul 3;14(1):3911. (PMID: 37400440)
J Neurochem. 2003 Dec;87(5):1296-308. (PMID: 14622109)
Bioinformatics. 2018 May 1;34(9):1600-1602. (PMID: 29069305)
Nat Methods. 2015 Jun;12(6):523-6. (PMID: 25938372)
Mol Cell Proteomics. 2014 Feb;13(2):397-406. (PMID: 24309898)
Traffic. 2020 Jan;21(1):76-93. (PMID: 31854087)
J Lipid Res. 2018 Dec;59(12):2262-2276. (PMID: 30279220)
PLoS One. 2016 Jun 21;11(6):e0157365. (PMID: 27327661)
Biochim Biophys Acta. 2015 Oct;1852(10 Pt B):2242-55. (PMID: 25962910)
Nat Protoc. 2014 Oct;9(10):2329-40. (PMID: 25188634)
Nat Methods. 2013 Aug;10(8):755-8. (PMID: 23817071)
J Child Neurol. 2013 Sep;28(9):1074-100. (PMID: 23838031)
J Neurosci Res. 1999 Aug 15;57(4):551-6. (PMID: 10440905)
Biomedicines. 2019 Mar 26;7(1):. (PMID: 30917585)
Pac Symp Biocomput. 2002;:310-22. (PMID: 11928486)
Biochim Biophys Acta. 2013 Nov;1832(11):1801-6. (PMID: 23602993)
J Cell Sci. 2005 Dec 1;118(Pt 23):5525-36. (PMID: 16291725)
Nature. 2014 Nov 20;515(7527):355-64. (PMID: 25409824)
Sci Rep. 2018 Oct 15;8(1):15229. (PMID: 30323181)
Int J Environ Res Public Health. 2019 Oct 17;16(20):. (PMID: 31627361)
Yeast. 2007 Oct;24(10):913-9. (PMID: 17583893)
Nature. 2019 Apr;568(7751):193-197. (PMID: 30944477)
Biochem J. 2020 Nov 13;477(21):4243-4261. (PMID: 33186452)
World J Stem Cells. 2020 Jan 26;12(1):8-24. (PMID: 32110272)
Mol Chem Neuropathol. 1996 Oct-Dec;29(2-3):227-35. (PMID: 8971698)
Genome Res. 2017 Jul;27(7):1184-1194. (PMID: 28381614)
Biochem Biophys Res Commun. 2007 Jun 22;358(1):111-6. (PMID: 17482562)
Sci Rep. 2021 Mar 18;11(1):6332. (PMID: 33737578)
Biochim Biophys Acta. 2009 Apr;1793(4):697-709. (PMID: 19084560)
Degener Neurol Neuromuscul Dis. 2016 Aug 01;6:73-83. (PMID: 30050370)
Mol Genet Genomic Med. 2019 Dec;7(12):e859. (PMID: 31568712)
Neuroscience. 2005;131(3):759-68. (PMID: 15730879)
Nat Biotechnol. 2020 Oct;38(10):1159-1163. (PMID: 32541957)
J Neurosci. 2007 Sep 12;27(37):9826-34. (PMID: 17855597)
PLoS Genet. 2017 Oct 19;13(10):e1007000. (PMID: 29049395)
FEBS Lett. 2013 May 2;587(9):1316-25. (PMID: 23499937)
Brain Commun. 2019 Sep 27;1(1):fcz019. (PMID: 32954262)
Acta Neuropathol Commun. 2019 Dec 30;7(1):222. (PMID: 31888773)
J Biol Chem. 2020 Apr 17;295(16):5257-5277. (PMID: 32144204)
Biomark Insights. 2022 Jun 19;17:11772719221107765. (PMID: 36212622)
Am J Med Genet. 1992 Feb 15;42(4):561-7. (PMID: 1535179)
Hum Mol Genet. 2008 Jan 15;17(2):303-12. (PMID: 17947292)
Biochem Biophys Res Commun. 1998 Sep 18;250(2):335-41. (PMID: 9753630)
Neurochem Res. 2011 Sep;36(9):1594-600. (PMID: 21136156)
Neurobiol Dis. 2011 Jun;42(3):468-74. (PMID: 21362476)
Methods. 2001 Dec;25(4):402-8. (PMID: 11846609)
Arzneimittelforschung. 1985;35(1):133-5. (PMID: 2859023)
Am J Hum Genet. 2006 Jun;78(6):988-98. (PMID: 16685649)
Dev Neurobiol. 2012 Mar;72(3):429-61. (PMID: 21595047)
Nat Genet. 1999 May;22(1):55-8. (PMID: 10319861)
J Fish Biol. 2016 Jun;88(6):2095-110. (PMID: 27126589)
Nucleic Acids Res. 2016 Jul 08;44(W1):W272-6. (PMID: 27185894)
Dis Model Mech. 2012 Mar;5(2):191-9. (PMID: 22107873)
Hum Mol Genet. 2002 Oct 15;11(22):2709-21. (PMID: 12374761)
Trends Analyt Chem. 2014 Oct 1;61:192-206. (PMID: 25309011)
Neuropathol Appl Neurobiol. 2009 Apr;35(2):189-207. (PMID: 19284480)
Hum Mol Genet. 2012 Jun 15;21(12):2646-50. (PMID: 22388936)
J Clin Invest. 2012 Jul;122(7):2337-43. (PMID: 22751109)
Epilepsy Behav. 2017 May;70(Pt A):224-231. (PMID: 28437751)
Development. 2016 Mar 1;143(5):741-53. (PMID: 26932669)
Front Neurosci. 2020 Sep 23;14:568930. (PMID: 33071740)
Cell Biochem Funct. 2012 Dec;30(8):677-82. (PMID: 22692827)
المشرفين على المادة: 0 (Cholesterol Esters)
0 (CLN3 protein, human)
0 (Membrane Glycoproteins)
0 (Molecular Chaperones)
تواريخ الأحداث: Date Created: 20240109 Date Completed: 20240112 Latest Revision: 20240425
رمز التحديث: 20240426
مُعرف محوري في PubMed: PMC10776888
DOI: 10.26508/lsa.202302057
PMID: 38195117
قاعدة البيانات: MEDLINE
الوصف
تدمد:2575-1077
DOI:10.26508/lsa.202302057