A Review on the Role of Genetic Mutations in the Autism Spectrum Disorder

Ghafouri‐Fard, Soudeh; Pourtavakoli, Ashkan; Hussen, Bashdar Mahmud; Taheri, Mohammad; Ayatollahi, Seyed Abdulmajid

doi:10.1007/s12035-023-03405-9

Cited by 7 publications

(4 citation statements)

References 87 publications

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“…Moreover, ASD is truly a disorder that occurs on a spectrum, with some individuals requiring little to no assistance with daily functioning and others showing significant deficits in various skills and needing day‐to‐day support. The causes of ASD are thought to be multifactorial, with environmental (Awadh et al, 2023; Yang et al, 2023), gestational (Sato et al, 2022), and genetic factors (Fang et al, 2023; Ghafouri‐Fard et al, 2023; Kereszturi, 2023) at play. Interestingly, several studies have begun to provide evidence that olfactory deficits are a common feature of individuals with ASD.…”

Section: Introductionmentioning

confidence: 99%

Deficits in olfactory system neurogenesis in neurodevelopmental disorders

Sweat,

Cheetham

2024

Genesis

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SummaryThe role of neurogenesis in neurodevelopmental disorders (NDDs) merits much attention. The complex process by which stem cells produce daughter cells that in turn differentiate into neurons, migrate various distances, and form synaptic connections that are then refined by neuronal activity or experience is integral to the development of the nervous system. Given the continued postnatal neurogenesis that occurs in the mammalian olfactory system, it provides an ideal model for understanding how disruptions in distinct stages of neurogenesis contribute to the pathophysiology of various NDDs. This review summarizes and discusses what is currently known about the disruption of neurogenesis within the olfactory system as it pertains to attention‐deficit/hyperactivity disorder, autism spectrum disorder, Down syndrome, Fragile X syndrome, and Rett syndrome. Studies included in this review used either human subjects, mouse models, or Drosophila models, and lay a compelling foundation for continued investigation of NDDs by utilizing the olfactory system.

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Section: Introductionmentioning

confidence: 99%

Deficits in olfactory system neurogenesis in neurodevelopmental disorders

Sweat,

Cheetham

2024

Genesis

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“…The role of calcium signaling related genes has been discussed in the context of brain disorders such as autism spectrum disorder 15 . Since calcium signaling has an efficient role in the neurodevelopmental disorders through regulation of normal neuronal activity, the related genes may play a role in the epilepsy as well.…”

Section: Introductionmentioning

confidence: 99%

Assessment of expression of calcium signaling related lncRNAs in epilepsy

Taheri,

Pourtavakoli,

Eslami

et al. 2023

Sci Rep

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Calcium signaling is a metabolic pathway that is essential in neurons development and can be involved in the pathobiology of epilepsy. We assessed expression of three mRNA coding gene (SLC1A1, SLC25A12, and ATP2B2) and three related long non-coding RNAs (LINC01231:1, lnc-SLC25A12-8:1 and lnc-MTR-1:1) from this pathway in 39 patients with refractory epilepsy and 71 healthy controls. Expression of all genes except for lnc-SLC25A12 was higher in total epileptic cases compared with controls (P values = 0.0002, < 0.0001, < 0.0001, 0.049 and 0.0005 for SLC1A1, SLC25A12, LINC01231, ATP2B2 and lnc-MTR-1, respectively. When we separately compared expression of genes among males and females, SLC1A1, SLC25A12, LINC01231 and lnc-MTR-1 showed up-regulation in male cases compared with male controls. Moreover, expressions of SLC1A1 and SLC25A12 were higher in female cases compared with female controls. Remarkably, SLC25A12 was found to have the highest sensitivity value (= 1) for differentiation of epileptic cases from controls. Moreover, lnc-MTR-1 and lnc-SLC25A12 were sensitive markers for such purpose (sensitivity values = 0.89 and 0.87, respectively). The highest value belonged to LINC01231 with the value of 0.76. Taken together, this study demonstrates dysregulation of calcium-signaling related genes in epileptic patients and suggests these genes as potential biomarkers for epilepsy.

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“…The SysNDD database annotated over 1600 high-confidence NDD genes, and those genes are active during early brain development and in several biological pathways, such as nervous system/synaptic function, transport, and chromosome/chromatin organization [8,9]. Of-ten, gene families are linked to specific NDDs; for example, genetic variants in the solute carrier (SLC) group of membrane transport proteins (i.e., SLC6A1, SLC22A5, SLC25A13, SLC38A11) are associated to ASD in multiple cases [10]. The members of the calciumdependent adhesion protein class of cadherins (CDH) that are involved in cellular contacts and migration throughout the development of the nervous system (i.e., CDH1-4, CDH7-8) are associated with NDDs, too [10].…”

mentioning

confidence: 99%

“…Of-ten, gene families are linked to specific NDDs; for example, genetic variants in the solute carrier (SLC) group of membrane transport proteins (i.e., SLC6A1, SLC22A5, SLC25A13, SLC38A11) are associated to ASD in multiple cases [10]. The members of the calciumdependent adhesion protein class of cadherins (CDH) that are involved in cellular contacts and migration throughout the development of the nervous system (i.e., CDH1-4, CDH7-8) are associated with NDDs, too [10]. More molecular pathways are affected in NDDs, including genes of the mTOR pathway in protein synthesis or genes of cell-adhesion molecules (CAMs), such as NEUREXINs and SHANKs in the organization of pre-and postsynaptic compartments [4].…”

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confidence: 99%

The Role of Bcl11 Transcription Factors in Neurodevelopmental Disorders

Seigfried,

Britsch

2024

Biology

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Neurodevelopmental disorders (NDDs) comprise a diverse group of diseases, including developmental delay, autism spectrum disorder (ASD), intellectual disability (ID), and attention-deficit/hyperactivity disorder (ADHD). NDDs are caused by aberrant brain development due to genetic and environmental factors. To establish specific and curative therapeutic approaches, it is indispensable to gain precise mechanistic insight into the cellular and molecular pathogenesis of NDDs. Mutations of BCL11A and BCL11B, two closely related, ultra-conserved zinc-finger transcription factors, were recently reported to be associated with NDDs, including developmental delay, ASD, and ID, as well as morphogenic defects such as cerebellar hypoplasia. In mice, Bcl11 transcription factors are well known to orchestrate various cellular processes during brain development, for example, neural progenitor cell proliferation, neuronal migration, and the differentiation as well as integration of neurons into functional circuits. Developmental defects observed in both, mice and humans display striking similarities, suggesting Bcl11 knockout mice provide excellent models for analyzing human disease. This review offers a comprehensive overview of the cellular and molecular functions of Bcl11a and b and links experimental research to the corresponding NDDs observed in humans. Moreover, it outlines trajectories for future translational research that may help to better understand the molecular basis of Bcl11-dependent NDDs as well as to conceive disease-specific therapeutic approaches.

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A Review on the Role of Genetic Mutations in the Autism Spectrum Disorder

Cited by 7 publications

References 87 publications

Deficits in olfactory system neurogenesis in neurodevelopmental disorders

Deficits in olfactory system neurogenesis in neurodevelopmental disorders

Assessment of expression of calcium signaling related lncRNAs in epilepsy

The Role of Bcl11 Transcription Factors in Neurodevelopmental Disorders

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