An Investigation of the Causal Link Between Palmoylation Genes and Epilepsy Utilising Multi-omics Mendelian Randomisation Analysis and Validation Through Single-Cell Evidence

Bedner P, Dupper A, Hüttmann K, Müller J, Herde MK, Dublin P, Deshpande T, Schramm J, Häussler U, Haas CA, Henneberger C, Theis M, Steinhäuser C (2015) Astrocyte uncoupling as a cause of human temporal lobe epilepsy. Brain 138:1208

Article  PubMed  PubMed Central  Google Scholar 

Brigidi GS, Bamji SX (2013) Detection of protein palmitoylation in cultured hippocampal neurons by immunoprecipitation and acyl-biotin exchange (ABE). J Vis Exp 18(72):50031

Bryois J, Calini D, Macnair W, Foo L, Urich E, Ortmann W, Iglesias VA, Selvaraj S, Nutma E, Marzin M, Amor S, Williams A, Castelo-Branco G, Menon V, De Jager P, Malhotra D (2022) Cell-type-specific cis-eQTLs in eight human brain cell types identify novel risk genes for psychiatric and neurological disorders. Nat Neurosci 25:1104

Article  CAS  PubMed  Google Scholar 

Burgess S, Butterworth A, Thompson SG (2013) Mendelian randomization analysis with multiple genetic variants using summarized data. Genet Epidemiol 37:658

Article  PubMed  PubMed Central  Google Scholar 

Buszka A, Pytyś A, Colvin D, Włodarczyk J, Wójtowicz T (2023) S-palmitoylation of synaptic proteins in neuronal plasticity in normal and pathological brains. Cells. https://doi.org/10.3390/cells12030387

Article  PubMed  PubMed Central  Google Scholar 

Cavus I, Kasoff WS, Cassaday MP, Jacob R, Gueorguieva R, Sherwin RS, Krystal JH, Spencer DD, Abi-Saab WM (2005) Extracellular metabolites in the cortex and hippocampus of epileptic patients. Ann Neurol 57:226

Article  CAS  PubMed  Google Scholar 

Devinsky O, Vezzani A, O’Brien TJ, Jette N, Scheffer IE, de Curtis M, Perucca P (2018) Epilepsy. Nat Rev Dis Primers 4:18024

Article  PubMed  Google Scholar 

Fukata Y, Fukata M (2010) Protein palmitoylation in neuronal development and synaptic plasticity. Nat Rev Neurosci 11:161

Article  CAS  PubMed  Google Scholar 

Fukata Y, Dimitrov A, Boncompain G, Vielemeyer O, Perez F, Fukata M (2013) Local palmitoylation cycles define activity-regulated postsynaptic subdomains. J Cell Biol 202:145

Article  CAS  PubMed  PubMed Central  Google Scholar 

Han J, Wu P, Wang F, Chen J (2015) S-palmitoylation regulates AMPA receptors trafficking and function: a novel insight into synaptic regulation and therapeutics. Acta Pharm Sin B 5:1

Article  CAS  PubMed  Google Scholar 

Hao Y, Hao S, Andersen-Nissen E, Mauck WM 3rd, Zheng S, Butler A, Lee MJ, Wilk AJ, Darby C, Zager M, Hoffman P, Stoeckius M, Papalexi E, Mimitou EP, Jain J, Srivastava A, Stuart T, Fleming LM, Yeung B, Rogers AJ, McElrath JM, Blish CA, Gottardo R, Smibert P, Satija R (2021) Integrated analysis of multimodal single-cell data. Cell 184:3573

Article  CAS  PubMed  PubMed Central  Google Scholar 

Huang K, Kang MH, Askew C, Kang R, Sanders SS, Wan J, Davis NG, Hayden MR (2010) Palmitoylation and function of glial glutamate transporter-1 is reduced in the YAC128 mouse model of Huntington disease. Neurobiol Dis 40:207

Article  CAS  PubMed  Google Scholar 

Lemonidis K, Gorleku OA, Sanchez-Perez MC, Grefen C, Chamberlain LH (2014) The Golgi S-acylation machinery comprises zDHHC enzymes with major differences in substrate affinity and S-acylation activity. Mol Biol Cell 25:3870

Article  PubMed  PubMed Central  Google Scholar 

Liao D, Huang Y, Liu D, Zhang H, Shi X, Li X, Luo P (2023) The role of s-palmitoylation in neurological diseases: implication for zDHHC family. Front Pharmacol 14:1342830

Article  CAS  PubMed  Google Scholar 

Matt L, Kim K, Hergarden AC, Patriarchi T, Malik ZA, Park DK, Chowdhury D, Buonarati OR, Henderson PB, Gökçek Saraç Ç, Zhang Y, Mohapatra D, Horne MC, Ames JB, Hell JW (2018) Α-actinin anchors PSD-95 at postsynaptic sites. Neuron 97:1094

Article  CAS  PubMed  PubMed Central  Google Scholar 

Noritake J, Fukata Y, Iwanaga T, Hosomi N, Tsutsumi R, Matsuda N, Tani H, Iwanari H, Mochizuki Y, Kodama T, Matsuura Y, Bredt DS, Hamakubo T, Fukata M (2009) Mobile DHHC palmitoylating enzyme mediates activity-sensitive synaptic targeting of PSD-95. J Cell Biol 186:147

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pannasch U, Vargová L, Reingruber J, Ezan P, Holcman D, Giaume C, Syková E, Rouach N (2011) Astroglial networks scale synaptic activity and plasticity. Proc Natl Acad Sci U S A 108:8467

Article  CAS  PubMed  PubMed Central  Google Scholar 

Panov A, Orynbayeva Z, Vavilin V, Lyakhovich V (2014) Fatty acids in energy metabolism of the central nervous system. Biomed Res Int 2014:472459

Article  PubMed  PubMed Central  Google Scholar 

Perez-Catalan NA, Doe CQ, Ackerman SD (2021) The role of astrocyte-mediated plasticity in neural circuit development and function. Neural Dev 16:1

Article  PubMed  PubMed Central  Google Scholar 

Rocks O, Gerauer M, Vartak N, Koch S, Huang ZP, Pechlivanis M, Kuhlmann J, Brunsveld L, Chandra A, Ellinger B, Waldmann H, Bastiaens PI (2010) The palmitoylation machinery is a spatially organizing system for peripheral membrane proteins. Cell 141:458

Article  CAS  PubMed  Google Scholar 

Salaun C, Greaves J, Chamberlain LH (2010) The intracellular dynamic of protein palmitoylation. J Cell Biol 191:1229

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sanders SS, Martin DD, Butland SL, Lavallée-Adam M, Calzolari D, Kay C, Yates JR 3rd, Hayden MR (2015) Curation of the mammalian palmitoylome indicates a pivotal role for palmitoylation in diseases and disorders of the nervous system and cancers. PLoS Comput Biol 11:e1004405

Article  PubMed  PubMed Central  Google Scholar 

Sanders SS, Hernandez LM, Soh H, Karnam S, Walikonis RS, Tzingounis AV, Thomas GM (2020) The palmitoyl acyltransferase ZDHHC14 controls Kv1-family potassium channel clustering at the axon initial segment. Elife. https://doi.org/10.7554/eLife.56058

Article  PubMed  PubMed Central  Google Scholar 

Smith GD, Ebrahim S (2003) Mendelian randomization’: can genetic epidemiology contribute to understanding environmental determinants of disease? Int J Epidemiol 32:1

Article  PubMed  Google Scholar 

Spinelli M, Fusco S, Mainardi M, Scala F, Natale F, Lapenta R, Mattera A, Rinaudo M, Li Puma DD, Ripoli C, Grassi A, D’Ascenzo M, Grassi C (2017) Brain insulin resistance impairs hippocampal synaptic plasticity and memory by increasing GluA1 palmitoylation through FoxO3a. Nat Commun 8:2009

Article  PubMed  PubMed Central  Google Scholar 

Stafstrom CE, Carmant L (2015) Seizures and epilepsy: an overview for neuroscientists. Cold Spring Harb Perspect Med. https://doi.org/10.1101/cshperspect.a022426

Article  PubMed  PubMed Central  Google Scholar 

Thijs RD, Surges R, O’Brien TJ, Sander JW (2019) Epilepsy in adults. Lancet 393:689

Article  PubMed  Google Scholar 

Tomić G, Sheridan C, Refermat AY, Baggelaar MP, Sipthorp J, Sudarshan B, Ocasio CA, Suárez-Bonnet A, Priestnall SL, Herbert E, Tate EW, Downward J (2024) Palmitoyl transferase ZDHHC20 promotes pancreatic cancer metastasis. Cell Rep 43:114224

Article  PubMed  Google Scholar 

Westra HJ, Peters MJ, Esko T, Yaghootkar H, Schurmann C, Kettunen J, Christiansen MW, Fairfax BP, Schramm K, Powell JE, Zhernakova A, Zhernakova DV, Veldink JH, Van den Berg LH, Karjalainen J, Withoff S, Uitterlinden AG, Hofman A, Rivadeneira F, Hoen PAC, Reinmaa E, Fischer K, Nelis M, Milani L, Melzer D, Ferrucci L, Singleton AB, Hernandez DG, Nalls MA, Homuth G, Nauck M, Radke D, Völker U, Perola M, Salomaa V, Brody J, Suchy-Dicey A, Gharib SA, Enquobahrie DA, Lumley T, Montgomery GW, Makino S, Prokisch H, Herder C, Roden M, Grallert H, Meitinger T, Strauch K, Li Y, Jansen RC, Visscher PM, Knight JC, Psaty BM, Ripatti S, Teumer A, Frayling TM, Metspalu A, van Meurs JBJ, Franke L (2013) Systematic identification of trans eQTLs as putative drivers of known disease associations. Nat Genet 45:1238

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zhang H, Sun Y, Wang Z, Huang X, Tang L, Jiang K, Jin X (2024) ZDHHC20-mediated S-palmitoylation of YTHDF3 stabilizes MYC mRNA to promote pancreatic cancer progression. Nat Commun 15:4642

Comments (0)

No login
gif