119
Views
0
CrossRef citations to date
0
Altmetric
Research Article

Genome-wide Methylation Analysis of Post-Mortem Cerebellum Samples Supports the Role of Peroxisomes in Autism Spectrum Disorder

, & ORCID Icon
Pages 1015-1027 | Received 21 Jun 2022, Accepted 06 Sep 2022, Published online: 26 Sep 2022

References

  • Voineagu I , EapenV. Converging pathways in autism spectrum disorders: interplay between synaptic dysfunction and immune responses. Front. Hum. Neurosci.7, 738 (2013).
  • Abrahams BS , GeschwindDH. Advances in autism genetics: on the threshold of a new neurobiology. Nat. Rev. Genet.9(5), 341–355 (2008).
  • Lotufo Denucci B , Silvade Lima L , FerreiraLima Mota Iet al. Current knowledge, challenges, new perspectives of the study, and treatments of autism spectrum disorder. Reprod. Toxicol.106, 82–93 (2021).
  • Marotta R , RisoleoMC , MessinaGet al. The neurochemistry of autism. Brain Sci.10(3), 163 (2020).
  • Bai D , YipBHK , WindhamGCet al. Association of genetic and environmental factors with autism in a 5-country cohort. JAMA Psychiatry76(10), 1035–1043 (2019).
  • Sandin S , LichtensteinP , Kuja-HalkolaRet al. The familial risk of autism. JAMA311(17), 1770–1777 (2014).
  • Hallmayer J , ClevelandS , TorresAet al. Genetic heritability and shared environmental factors among twin pairs with autism. Arch. Gen. Psychiatry68(11), 1095–1102 (2011).
  • Croen LA , GretherJK , HoogstrateJ , SelvinS. The changing prevalence of autism in California. J. Autism Dev. Disord.32(3), 207–215 (2002).
  • Schendel D , BhasinTK. Birth weight and gestational age characteristics of children with autism, including a comparison with other developmental disabilities. Pediatrics121(6), 1155–1164 (2008).
  • Gardener H , SpiegelmanD , BukaSL. Prenatal risk factors for autism: comprehensive meta-analysis. Br. J. Psychiatry195(1), 7–14 (2009).
  • Atladóttir HÓ , ThorsenP , ØstergaardLet al. Maternal infection requiring hospitalization during pregnancy and autism spectrum disorders. J. Autism Dev. Disord.40(12), 1423–1430 (2010).
  • Ciernia AV , LaSalleJ. The landscape of DNA methylation amid a perfect storm of autism aetiologies. Nat. Rev. Neurosci.17(7), 411 (2016).
  • Schaevitz LR , Berger-SweeneyJE. Gene–environment interactions and epigenetic pathways in autism: the importance of one-carbon metabolism. ILAR J.53(3-4), 322–340 (2012).
  • Abdolmaleky HM , ZhouJR , ThiagalingamS. An update on the epigenetics of psychotic diseases and autism. Epigenomics7(3), 427–449 (2015).
  • LaSalle JM , PowellWT , YasuiDH. Epigenetic layers and players underlying neurodevelopment. Trends Neurosci.36(8), 460–470 (2013).
  • Miller JL , GrantPA. The role of DNA methylation and histone modifications in transcriptional regulation in humans. Subcell. Biochem.61, 289 (2013).
  • Wong CCY , MeaburnEL , RonaldAet al. Methylomic analysis of monozygotic twins discordant for autism spectrum disorder and related behavioural traits. Mol. Psychiatry19(4), 495–503 (2013).
  • Nardone S , SharanSams D , ReuveniEet al. DNA methylation analysis of the autistic brain reveals multiple dysregulated biological pathways. Transl. Psychiatry4(9), e433–e433 (2014).
  • Andrews SV , SheppardB , WindhamGCet al. Case-control meta-analysis of blood DNA methylation and autism spectrum disorder. Mol. Autism9(1), 1–11 (2018).
  • Liang S , LiZ , WangYet al. Genome-wide DNA methylation analysis reveals epigenetic pattern of SH2B1 in Chinese monozygotic twins discordant for autism spectrum disorder. Front. Neurosci.13, 712 (2019).
  • Loke YJ , HannanAJ , CraigJM. The role of epigenetic change in autism spectrum disorders. Front. Neurol.6, 107 (2015).
  • Cheh MA , MillonigJH , RoselliLMet al. En2 knockout mice display neurobehavioral and neurochemical alterations relevant to autism spectrum disorder. Brain Res.1116(1), 166–176 (2006).
  • Gregory SG , ConnellyJJ , TowersAJet al. Genomic and epigenetic evidence for oxytocin receptor deficiency in autism. BMC Med.7(1), 1–13 (2009).
  • Zhubi A , ChenY , GuidottiA , GraysonDR. Epigenetic regulation of RELN and GAD1 in the frontal cortex (FC) of autism spectrum disorder (ASD) subjects. Int. J. Dev. Neurosci.62, 63–72 (2017).
  • Nagarajan RP , HogartAR , GwyeYet al. Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation. Epigenetics1(4), 172–182 (2006).
  • Nagarajan RP , PatzelKA , MartinMet al. MECP2 promoter methylation and X chromosome inactivation in autism. Autism Res.1(3), 169–178 (2008).
  • Ladd-Acosta C , HansenKD , BriemEet al. Common DNA methylation alterations in multiple brain regions in autism. Mol. Psychiatry19(8), 862–871 (2014).
  • Nardone S , SharanSams D , ReuveniEet al. DNA methylation analysis of the autistic brain reveals multiple dysregulated biological pathways. Transl. Psychiatry4(9), e433–e433 (2014).
  • Becker EBE , StoodleyCJ. Autism spectrum disorder and the cerebellum. Int. Rev. Neurobiol.113, 1–34 (2013).
  • D’Mello AM , StoodleyCJ. Cerebro-cerebellar circuits in autism spectrum disorder. Front. Neurosci.9, 408 (2015).
  • Rogers TD , McKimmE , DicksonPEet al. Is autism a disease of cerebellum? An integration of clinical and pre-clinical research. Front. Syst. Neurosci.7, 15 (2013).
  • World Medical Association Declaration of Helsinki: ethical principles for medical research involving human subjects. JAMA310(20), 2191–2194 (2013).
  • Li LC , DahiyaR. MethPrimer: designing primers for methylation PCRs. Bioinformatics18(11), 1427–1431 (2002).
  • Arányi T , VáradiA , SimonI , TusnádyGE. The BiSearch web server. BMC Bioinform.7(1), 1–7 (2006).
  • Saxena S , MarojuPA , ChoudhurySet al. Analysis of transcript levels of a few schizophrenia candidate genes in neurons from a transgenic mouse embryonic stem cell model overexpressing DNMT1. Gene757, 144934 (2020).
  • Kent WJ , SugnetCW , FureyTSet al. The Human Genome Browser at UCSC. Genome Res.12(6), 996–1006 (2002).
  • Saxena S , ChoudhuryS , MarojuPAet al. Dysregulation of schizophrenia-associated genes and genome-wide hypomethylation in neurons overexpressing DNMT1. Epigenomics13(19), 1539–1555 (2021).
  • Bibikova M , LeJ , BarnesBet al. Genome-wide DNA methylation profiling using Infinium® assay. Epigenomics1(1), 177–200 (2009).
  • Southwood C , HeC , GarbernJet al. CNS myelin paranodes require Nkx6-2 homeoprotein transcriptional activity for normal structure. J. Neurosci.24(50), 11215–11225 (2004).
  • Chelban V , PatelN , VandrovcovaJet al. Mutations in NKX6-2 cause progressive spastic ataxia and hypomyelination. Am. J. Hum. Genet.100(6), 969–977 (2017).
  • Anazi S , MaddirevulaS , SalpietroVet al. Expanding the genetic heterogeneity of intellectual disability. Hum. Genet.136(11), 1419–1429 (2017).
  • Wang M , ChenX , ZhangY. Biological functions of gasdermins in cancer: from molecular mechanisms to therapeutic potential. Front. Cell Dev. Biol.9, 638710 (2021).
  • Xiao J , WangC , YaoJCet al. Gasdermin D mediates the pathogenesis of neonatal-onset multisystem inflammatory disease in mice. PLOS Biol.16(11), e3000047 (2018).
  • Toma C , TorricoB , HervásAet al. Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations. Mol. Psychiatry19(7), 784–790 (2014).
  • Carta E , ChungSK , JamesVMet al. Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease. J. Biol. Chem.287(34), 28975–28985 (2012).
  • Rees MI , HarveyK , PearceBRet al. Mutations in the human GlyT2 gene define a presynaptic component of human startle disease Europe PMC Funders Group. Nat. Genet.38(7), 801–806 (2006).
  • Carrillo-Carrasco N , ChandlerRJ , VendittiCP. Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management. J. Inherit. Metab. Dis.35(1), 91–102 (2012).
  • Wang C , LiD , CaiFet al. Mutation spectrum of MMACHC in Chinese pediatric patients with cobalamin C disease: a case series and literature review. Eur. J. Med. Genet.62(10), 103713 (2019).
  • Ran S , LiuYJ , ZhangLet al. Genome-Wide association study identified copy number variants important for appendicular lean mass. PLOS ONE9(3), e89776 (2014).
  • Al-Gadani Y , El-AnsaryA , AttasO , Al-AyadhiL. Metabolic biomarkers related to oxidative stress and antioxidant status in Saudi autistic children. Clin. Biochem.42(10-11), 1032–1040 (2009).
  • Thomas RH , ChungSK , WoodSEet al. Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay. Brain136(10), 3085–3095 (2013).
  • Tirouvanziam R , ObukhanychTV , LavalJet al. Distinct plasma profile of polar neutral amino acids, leucine, and glutamate in children with autism spectrum disorders. J. Autism Dev. Disord.42(5), 827–836 (2012).
  • Shinohe A , HashimotoK , NakamuraKet al. Increased serum levels of glutamate in adult patients with autism. Prog. Neuropsychopharmacol. Biol. Psychiatry30(8), 1472–1477 (2006).
  • Zhang Y , HoTNT , HarveyRJet al. Structure–function analysis of the GlyR α2 subunit autism mutation p.R323L reveals a gain-of-function. Front. Mol. Neurosci.10, 158 (2017).
  • Carvill GL , JansenS , LacroixAet al. Genetic convergence of developmental and epileptic encephalopathies and intellectual disability. Dev. Med. Child Neurol.63(12), 1441–1447 (2021).
  • Anttila V , Bulik-SullivanB , FinucaneHKet al. Analysis of shared heritability in common disorders of the brain. Science360(6395), eaap8757 (2018).
  • Berger J , DorningerF , Forss-PetterS , KunzeM. Peroxisomes in brain development and function. Biochim. Biophys. Acta1863(5), 934–955 (2016).
  • Ro M , ParkJ , NamMet al. Association between peroxisomal biogenesis factor 7 and autism spectrum disorders in a Korean population. J. Child Neurol.27(10), 1270–1275 (2012).
  • Dorninger F , KönigT , ScholzePet al. Disturbed neurotransmitter homeostasis in ether lipid deficiency. Hum. Mol. Genet.28(12), 2046–2061 (2019).
  • Yu TW , ChahrourMH , CoulterMEet al. Using whole-exome sequencing to identify inherited causes of autism. Neuron77(2), 259–273 (2013).
  • Essa MM , BraidyN , WalyMIet al. Impaired antioxidant status and reduced energy metabolism in autistic children. Res. Autism Spectr. Disord.7(5), 557–565 (2013).
  • Ranjbar A , RashediV , RezaeiM. Comparison of urinary oxidative biomarkers in Iranian children with autism. Res. Dev. Disabil.35(11), 2751–2755 (2014).
  • Kashevarova AA , NazarenkoLP , SkryabinNAet al. Array CGH analysis of a cohort of Russian patients with intellectual disability. Gene536(1), 145–150 (2014).

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.