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Identification of Peripheral Blood mIR-128-3p Molecular Signature in Children with Autism Spectrum Disorder Cover

Identification of Peripheral Blood mIR-128-3p Molecular Signature in Children with Autism Spectrum Disorder

By: ,   and    
Open Access
|Oct 2026

Figures & Tables

Table 1.

Structure and some demographic features of the ASD and typically developing children (TDC) cohorts used in this study.

DemographicASD (n=23)TDC (n=21)
Sex, M/F18 male; 5 female17 male; 4 female
Mean age/years4.764.57
Age range/years3 – 63 – 6
Table 2.

Complete list of biological processes associated with the validated target genes of miR-128-3p.

Biological ProcessGenes
GO:0007610~behaviorNLGN3, HRAS, MAOA, TSC2, SCN1A, OXTR, AFF2, KRAS, PAFAH1B1, COMT, GRIK2, KCNMA1, GABRA5, BDNF, AVPR1A, MET, DBH, CHRNA4, PTEN, BCL2, NF1, IL1RAPL1, GRPR, MAP2K1, CACNA1C, RELN, NLGN4X, TBX1, FOXP2, MKKS, AGTR2, CHRNB2, DRD3, DRD4, FEZF2, CHD7, ACSL4, MAPK1
GO:0019226~transmission of nerve impulseGABRB3, NLGN3, MAOA, DMPK, SCN1A, OXTR, PAFAH1B1, COMT, GRIK2, KCND2, KCNMA1, GABRA5, NTF3, DBH, DMD, NRXN1, CHRNA4, NF1, GAD1, CACNA1E, CACNA1C, PAH, ALDH5A1, TSC1, SLC6A4, CHRNB2, CNTNAP2, DRD3, DRD4, GABRG3, MAPK1
GO:0007611~learning or memoryHRAS, PTEN, NLGN3, NF1, IL1RAPL1, GRPR, CACNA1C, OXTR, AFF2, PAFAH1B1, KRAS, COMT, FOXP2, BDNF, GABRA5, CHRNB2, DRD3, DBH, ACSL4
GO:0007268~synaptic transmissionGABRB3, NLGN3, MAOA, DMPK, OXTR, PAFAH1B1, COMT, GRIK2, KCND2, KCNMA1, GABRA5, NTF3, DBH, DMD, NRXN1, CHRNA4, GAD1, CACNA1E, CACNA1C, PAH, ALDH5A1, SLC6A4, CHRNB2, DRD3, DRD4, GABRG3, MAPK1
GO:0030030~cell projection organizationPTPN11, TSC2, PAFAH1B1, L1CAM, ARX, HOXA1, CYFIP1, OPHN1, CEP290, FGD1, FEZF1, BDNF, NTF3, FOXG1, TBR1, RPGRIP1L, DCX, DMD, NRXN1, PTEN, BCL2, MAP2K1, CACNA1F, RELN, TSC1, MKKS, SEMA5A, CHRNB2, FEZF2
GO:0048666~neuron developmentRPE65, PTPN11, PAFAH1B1, L1CAM, HOXA1, ARX, CYFIP1, OPHN1, CEP290, FEZF1, BDNF, NTF3, FOXG1, TBR1, DCX, DMD, NRXN1, PTEN, BCL2, MAP2K1, CACNA1F, RELN, SEMA5A, EN2, CHRNB2, CNTNAP2, FEZF2
GO:0032990~cell part morphogenesisNRXN1, DMD, BCL2, PTPN11, MAP2K1, PAFAH1B1, CACNA1F, RELN, L1CAM, ARX, HOXA1, MKKS, CYFIP1, SEMA5A, OPHN1, FEZF1, BDNF, CHRNB2, NTF3, FOXG1, RPGRIP1L, TBR1, FEZF2, DCX
GO:0050877~neurological system processGABRB3, HRAS, RPE65, NLGN3, MAOA, DMPK, AFF2, OXTR, SCN1A, KRAS, PAFAH1B1, COMT, GRIK2, KCND2, KCNMA1, GABRA5, BDNF, NTF3, DBH, NRXN1, DMD, CHRNA4, PTEN, NF1, GAD1, IL1RAPL1, CACNA1E, GRPR, CACNA1C, CACNA1F, ALDH7A1, PAH, ALDH5A1, TBX1, FOXP2, MKKS, TSC1, AGTR2, SLC6A4, CHRNB2, CNTNAP2, DRD3, NDP, DRD4, GABRG3, CHD7, ACSL4, MAPK1
GO:0048812~neuron projection morphogenesisNRXN1, DMD, PTPN11, BCL2, MAP2K1, PAFAH1B1, CACNA1F, RELN, L1CAM, ARX, HOXA1, CYFIP1, SEMA5A, OPHN1, FEZF1, BDNF, CHRNB2, NTF3, FOXG1, TBR1, FEZF2, DCX
GO:0030900~forebrain developmentNF1, OXTR, PAFAH1B1, RELN, ARX, FOXP2, MKKS, TSC1, ATRX, OTX1, SLC6A4, FEZF1, CHRNB2, PITX1, YWHAE, FOXG1, RPGRIP1L, AVPR1A, FEZF2
GO:0031175~neuron projection developmentNRXN1, DMD, PTEN, BCL2, PTPN11, MAP2K1, PAFAH1B1, CACNA1F, RELN, L1CAM, ARX, HOXA1, CYFIP1, SEMA5A, OPHN1, FEZF1, BDNF, CHRNB2, NTF3, FOXG1, TBR1, DCX, FEZF2
GO:0035176~social behaviorNLGN3, TBX1, MKKS, GRPR, OXTR, CHRNB2, DRD3, DRD4, AVPR1A, NLGN4X
GO:0007409~axonogenesisNRXN1, BCL2, PTPN11, PAFAH1B1, CACNA1F, RELN, L1CAM, ARX, HOXA1, CYFIP1, SEMA5A, OPHN1, FEZF1, BDNF, CHRNB2, NTF3, FOXG1, TBR1, FEZF2, DCX
GO:0030182~neuron differentiationRPE65, PTPN11, PAFAH1B1, L1CAM, HOXA1, KCNMA1, ARX, CYFIP1, OPHN1, CEP290, FEZF1, BDNF, NTF3, FOXG1, TBR1, DCX, DMD, NRXN1, PTEN, BCL2, MAP2K1, CACNA1F, RELN, SEMA5A, EN2, CHRNB2, CNTNAP2, FEZF2
GO:0007267~cell-cell signalingGABRB3, NLGN3, MAOA, DMPK, OXTR, PAFAH1B1, COMT, GRIK2, KCNMA1, KCND2, IGF2, BDNF, GABRA5, NTF3, DBH, DMD, CHRNA4, GAD1, NRXN1, CACNA1E, CACNA1C, PAH, ALDH5A1, SEMA5A, SLC6A4, CHRNB2, RAPGEF4, DRD3, NDP, DRD4, GABRG3, MAPK1
GO:0048667~cell morphogenesis involved in neuron differentiationNRXN1, BCL2, PTPN11, PAFAH1B1, CACNA1F, RELN, L1CAM, ARX, HOXA1, CYFIP1, SEMA5A, OPHN1, FEZF1, BDNF, CHRNB2, TBR1, FOXG1, NTF3, FEZF2, DCX
GO:0000902~cell morphogenesisNRXN1, BCL2, DMD, MAP2K1, PTPN11, PAFAH1B1, CACNA1F, RELN, L1CAM, ARX, HOXA1, MKKS, CYFIP1, SEMA5A, OPHN1, FEZF1, BDNF, CHRNB2, NTF3, FOXG1, RPGRIP1L, TBR1, FEZF2, DCX
GO:0032989~cellular component morphogenesisPTPN11, PAFAH1B1, L1CAM, HOXA1, ARX, CYFIP1, OPHN1, FEZF1, BDNF, TTN, NTF3, FOXG1, TBR1, RPGRIP1L, DCX, NRXN1, DMD, BCL2, MAP2K1, CACNA1F, RELN, MKKS, SEMA5A, CHRNB2, FEZF2
GO:0000904~cell morphogenesis involved in differentiationNRXN1, BCL2, PTPN11, PAFAH1B1, CACNA1F, RELN, L1CAM, ARX , HOXA1, CYFIP1, SEMA5A, OPHN1, FEZF1, BDNF, CHRNB2, NTF3, FOXG1, TBR1, FEZF2, DCX
GO:0051705~behavioral interaction between organismsNLGN3, TBX1, MKKS, GRPR, OXTR, CHRNB2, DRD3, DRD4, AVPR1A, NLGN4X
GO:0007612~learningHRAS, NLGN3, FOXP2, NF1, CACNA1C, GABRA5, CHRNB2, KRAS, DRD3, COMT, DBH
GO:0044057~regulation of system processHRAS, NLGN3, PTPN11, DMPK , MAP2K1, CACNA1C, OXTR, KRAS, GRIK2, IGF2, KCNMA1, AGTR2, BDNF, CHRNB2 , NTF4, DRD3, NTF3, DRD4, AVPR1A, DBH
GO:0021537~telencephalon developmentARX, FOXP2, NF1, TSC1, MKKS, OXTR, PAFAH1B1, YWHAE, AVPR1A, RPGRIP1L, RELN
GO:0007411~axon guidanceNRXN1, L1CAM, RELN, HOXA1, ARX, SEMA5A, OPHN1, BDNF, FEZF1, NTF3, FOXG1, TBR1, FEZF2
GO:0008542~visual learningHRAS, NLGN3, NF1, CACNA1C, CHRNB2, KRAS, DRD3, DBH
GO:0048878~chemical homeostasisCHRNA4, NLGN3, BCL2, NF1, PTPN11, DMPK, CACNA1E, PRKCB, CACNA1C, OXTR, SCN1A, CACNA1F, GRIK2, IGF2, KCND2, KCNMA1, TSC1, SLC9A6, CHRNB2, NTF3, DRD3, DRD4, AVPR1A, DBH
GO:0006928~cell motionNRXN1, DNAH5, PTEN, MAP2K1, PAFAH1B1, RELN, L1CAM, ARX, HOXA1, TBX1, SEMA5A , OPHN1, FEZF1, BDNF, NTF3Y, YWHAE, FOXG1, TBR1, SATB2, MET, DBH, FEZF2, DCX
GO:0042391~regulation of membrane potentialCHRNA4, NLGN3, BCL2, NF1, DMPK, SCN1A, GRIK2, KCND2, KCNMA1, TSC1, CHRNB2, NTF3, DRD4
GO:0007632~visual behaviorHRAS, NLGN3, NF1, CACNA1C, CHRNB2, KRAS, DRD3, DBH
GO:0030534~adult behaviorCHRNA4, KCNMA1, CACNA1C, SCN1A, PAFAH1B1, CHRNB2, DRD3, DRD4, MET, DBH, CHD7
GO:0050801~ion homeostasisCHRNA4, NLGN3, BCL2, NF1, DMPK, PRKCB, CACNA1C, OXTR, SCN1A, CACNA1F, GRIK2, KCND2, KCNMA1, TSC1, SLC9A6, CHRNB2, NTF3 , DRD3, DRD4, AVPR1A
GO:0033555~multicellular organismal response to stressGRIK2, BCL2, BDNF, GABRA5, DRD4, COMT, RELN, DBH
GO:0006873~cellular ion homeostasisCHRNA4, NLGN3, BCL2, NF1, DMPK, PRKCB, CACNA1C, OXTR, SCN1A, CACNA1F, GRIK2, KCND2, KCNMA1, TSC1, CHRNB2, DRD3, NTF3, DRD4, AVPR1A
GO:0055082~cellular chemical homeostasisCHRNA4, NLGN3, BCL2, NF1, DMPK, PRKCB, CACNA1C, OXTR, SCN1A, CACNA1F, GRIK2, KCND2, KCNMA1, TSC1, DRD3, CHRNB2, NTF3, DRD4, AVPR1A
Figure 1.

Process flowchart. 1) Patient enrolment and blood collection; 2) Total RNA extraction for downstream analyses; 3) MicroRNA Expression Profiling (LC Science); 4) Stem-loop Reverse Transcription of miRNAs; 5) miRNA specific Real-Time qPCR; 6) Data analysis using the SPSS software.

Figure 2.

A box plot diagram showing the miR-128-3p expression profile determined by qRT-PCR in individual ASD and control (TDC) samples. The top of the box indicates the 75th percentile while the bottom corresponds to the 25th percentile. The line in the middle represents the median. Circles and the asterisks represent the outliers.

Figure 3.

Performance of the miR-128-3p prediction model. Receiver operating characteristic (ROC) curve analysis of miR-128-3p was conducted to assess its predictive accuracy for ASD. The AUC was calculated to be 0.694. The diagonal lines on the plots represent the random classification accuracy (AUC 0.5).

DOI: https://doi.org/10.2478/bjmg-2026-0009 | Journal eISSN: 2199-5761 (formerly 1311-0160) | Journal ISSN: 1311-0160
Language: English
Page range: 7 - 16
Published on: Oct 14, 2026
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services

© 2026 TN Popov, SD Minchev, TI Vachev, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution 4.0 License.