Altered Global mRNA Expressions of Pain and Aggression Related Genes in the Blood of Children with Autism Spectrum Disorders

Şener, Elif Funda; Taheri, Serpil; Sahin, Mustafa Caglar; Bayramov, Keziban Korkmaz; Marasli, Mert Kahraman; Zararsız, Gökmen; Mehmetbeyoglu, Ecmel; Öztop, Didem Behice; Canpolat, Mehmet; Canatan, Halit; Özkul, Yusuf

doi:10.1007/s12031-018-1213-0

Cited by 21 publications

(16 citation statements)

References 50 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Clinical heterogeneity is the characteristic of ASD cases, and this heterogeneity is present at different levels of analysis such as genetics, neural systems, cognition, development, and behavior, as well as in clinical features from response to treatment [17] . Despite the current technological advances, the etiology of autism is still unknown and great efforts are being made to understand the nature of autism and its associated molecular pathways [18] . Rett's syndrome, fragile X syndrome, and tuberous sclerosis (TS) are classified as syndromic ASD.…”

Section: Characteristics and Genetic Background Of Autism Spectrum DImentioning

confidence: 99%

Animal models of autism: a perspective from autophagy mechanisms

Dana¹,

Tahtasakal²,

Şener³

2020

jtgg

Self Cite

View full text Add to dashboard Cite

Autism spectrum disorder (ASD) is characterized by impairments in social interaction and the presence of stereotypy and restrictive behavior. The clinical heterogeneity of ASD makes it difficult to explain the mechanisms underlying the disease. In recent years, the association between autophagy and neuropsychiatric diseases has been investigated. In this review, we aimed elucidate the relationship between autism and autophagy mechanism in well-known autism relevant animal models. Autophagy is a cell-protective mechanism that allows cell survival in low nutrient conditions, often through the degradation of aging and damaged proteins and organelles. The target of rapamycin (TOR) complex is activated for the activation of autophagy. Apart from mTOR animal models, the valproic acid model is frequently used in autism studies. The coiled-coil and C2 domain containing 1A (CC2D1A) gene is one of the new candidate genes associated with ASD. In a recent study that used Cc2d1a knockout mice, microtubule-associated protein 1A/1B-light chain 3 (LC3) and Beclin 1 expression levels were dysregulated in the hippocampus. It is thought that the impaired autophagy mechanism contributes to the etiology of ASD. These results showed that CC2D1A acts as a new biological pathway in autophagy. Choosing the right model is crucial for ASD studies, and further progress will be made as these results become available in the clinic. In particular, it is expected that further studies on CC2D1A will provide new information in this field.

show abstract

Section: Characteristics and Genetic Background Of Autism Spectrum DImentioning

confidence: 99%

Animal models of autism: a perspective from autophagy mechanisms

Dana¹,

Tahtasakal²,

Şener³

2020

jtgg

Self Cite

View full text Add to dashboard Cite

show abstract

“…G-protein coupled receptors found across the brain. Elevated TACR1 mRNA levels in ASD patients with heightened aggression 49 . Decreased aggression in Tacr1-KO mice 50 .…”

Section: Gene Symbol Encoded Proteinmentioning

confidence: 99%

Mutually suppressive roles of KMT2A and KDM5C in behaviour, neuronal structure, and histone H3K4 methylation

et al. 2020

View full text Add to dashboard Cite

Histone H3 lysine 4 methylation (H3K4me) is extensively regulated by numerous writer and eraser enzymes in mammals. Nine H3K4me enzymes are associated with neurodevelopmental disorders to date, indicating their important roles in the brain. However, interplay among H3K4me enzymes during brain development remains largely unknown. Here, we show functional interactions of a writer-eraser duo, KMT2A and KDM5C, which are responsible for Wiedemann-Steiner Syndrome (WDSTS), and mental retardation X-linked syndromic Claes-Jensen type (MRXSCJ), respectively. Despite opposite enzymatic activities, the two mouse models deficient for either Kmt2a or Kdm5c shared reduced dendritic spines and increased aggression. Double mutation of Kmt2a and Kdm5c clearly reversed dendritic morphology, key behavioral traits including aggression, and partially corrected altered transcriptomes and H3K4me landscapes. Thus, our study uncovers common yet mutually suppressive aspects of the WDSTS and MRXSCJ models and provides a proof of principle for balancing a single writer-eraser pair to ameliorate their associated disorders.

show abstract

“…The QTL window on SSC1 at 54.4–55.4 Mb, accounting for 1.09% of additive genetic variance, harboured HTR1E , which encodes 5-hydroxytryptamine 1E receptor protein. The 5-hydroxytryptamine, which is also known as serotonin, plays an important role in mood control 30 , HTR1E has been implicated in autism spectrum disorders 31 . On SSC1, the QTL window at 51.5–52.5 Mb, explaining 0.58% of additive genetic variance, contained RIMS1 .…”

Section: Resultsmentioning

confidence: 99%

“…The 5-hydroxytryptamine, which is also known as serotonin, plays an important role in mood control 30 , HTR1E has been implicated in autism spectrum disorders 31 . On SSC1, the QTL window at 51.5-52.5 Mb, explaining 0.58% of additive genetic variance, contained RIMS1.…”

Section: Gwas Of Sge and Dge On Adg Sge On Adgmentioning

confidence: 99%

Single-step genome-wide association study for social genetic effects and direct genetic effects on growth in Landrace pigs

Hong

Lee

Ramayo-Caldas

et al. 2020

Sci Rep

View full text Add to dashboard Cite

In livestock social interactions, social genetic effects (SGE) represent associations between phenotype of one individual and genotype of another. Such associations occur when the trait of interest is affected by transmissible phenotypes of social partners. The aim of this study was to estimate SGE and direct genetic effects (DGE, genetic effects of an individual on its own phenotype) on average daily gain (ADG) in Landrace pigs, and to conduct single-step genome-wide association study using SGE and DGE as dependent variables to identify quantitative trait loci (QTLs) and their positional candidate genes. A total of 1,041 Landrace pigs were genotyped using the Porcine SNP 60K BeadChip. Estimates of the two effects were obtained using an extended animal model. The SGE contributed 16% of the total heritable variation of ADG. The total heritability estimated by the extended animal model including both SGE and DGE was 0.52. The single-step genome-wide association study identified a total of 23 QTL windows for the SGE on ADG distributed across three chromosomes (i.e., SSC1, SSC2, and SSC6). Positional candidate genes within these QTL regions included PRDM13, MAP3K7, CNR1, HTR1E, IL4, IL5, IL13, KIF3A, EFHD2, SLC38A7, mTOR, CNOT1, PLCB2, GABRR1, and GABRR2, which have biological roles in neuropsychiatric processes. The results of biological pathway and gene network analyses also support the association of the neuropsychiatric processes with SGE on ADG in pigs. Additionally, a total of 11 QTL windows for DGE on ADG in SSC2, 3, 6, 9, 10, 12, 14, 16, and 17 were detected with positional candidate genes such as ARL15. We found a putative pleotropic QTL for both SGE and DGE on ADG on SSC6. Our results in this study provide important insights that can help facilitate a better understanding of the molecular basis of SGE for socially affected traits.

show abstract

Altered Global mRNA Expressions of Pain and Aggression Related Genes in the Blood of Children with Autism Spectrum Disorders

Cited by 21 publications

References 50 publications

Animal models of autism: a perspective from autophagy mechanisms

Animal models of autism: a perspective from autophagy mechanisms

Mutually suppressive roles of KMT2A and KDM5C in behaviour, neuronal structure, and histone H3K4 methylation

Single-step genome-wide association study for social genetic effects and direct genetic effects on growth in Landrace pigs

Contact Info

Product

Resources

About