Molecular Autism
SCOPUS (2010-2023)SCIE-ISI
2040-2392
Cơ quản chủ quản: BioMed Central Ltd. , BMC
Lĩnh vực:
Molecular BiologyPsychiatry and Mental HealthDevelopmental BiologyDevelopmental Neuroscience
Các bài báo tiêu biểu
Early sex differences are not autism-specific: A Baby Siblings Research Consortium (BSRC) study
- 2015
CRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in neurodevelopment
Tập 6 Số 1 - 2015
Decreased tryptophan metabolism in patients with autism spectrum disordersAbstract
Background
Autism spectrum disorders (ASDs) are relatively common neurodevelopmental conditions whose biological basis has been incompletely determined. Several biochemical markers have been associated with ASDs, but there is still no laboratory test for these conditions.
Methods
We analyzed the metabolic profile of lymphoblastoid cell lines from 137 patients with neurodevelopmental disorders with or without ASDs and 78 normal individuals, using Biolog Phenotype MicroArrays.
Results
Metabolic profiling of lymphoblastoid cells revealed that the 87 patients with ASD as a clinical feature, as compared to the 78 controls, exhibited on average reduced generation of NADH when tryptophan was the sole energy source. The results correlated with the behavioral traits associated with either syndromal or non-syndromal autism, independent of the genetic background of the individual. The low level of NADH generation in the presence of tryptophan was not observed in cell lines from non-ASD patients with intellectual disability, schizophrenia or conditions exhibiting several similarities with syndromal autism except for the behavioral traits. Analysis of a previous small gene expression study found abnormal levels for some genes involved in tryptophan metabolic pathways in 10 patients.
Conclusions
Tryptophan is a precursor of important compounds, such as serotonin, quinolinic acid, and kynurenic acid, which are involved in neurodevelopment and synaptogenesis. In addition, quinolinic acid is the structural precursor of NAD+ , a critical energy carrier in mitochondria. Also, the serotonin branch of the tryptophan metabolic pathway generates NADH. Lastly, the levels of quinolinic and kynurenic acid are strongly influenced by the activity of the immune system. Therefore, decreased tryptophan metabolism may alter brain development, neuroimmune activity and mitochondrial function. Our finding of decreased tryptophan metabolism appears to provide a unifying biochemical basis for ASDs and perhaps an initial step in the development of a diagnostic assay for ASDs.
- 2013
Neural synchronization deficits linked to cortical hyper-excitability and auditory hypersensitivity in fragile X syndrome
Tập 8 Số 1 - 2017
Default mode network in young male adults with autism spectrum disorder: relationship with autism spectrum traits
Tập 5 Số 1 - 2014
Is social camouflaging associated with anxiety and depression in autistic adults?Abstract
Background
There is inconsistent evidence for a clear pattern of association between ‘camouflaging’ (strategies used to mask and/or compensate for autism characteristics during social interactions) and mental health.
Methods
This study explored the relationship between self-reported camouflaging and generalised anxiety, depression, and social anxiety in a large sample of autistic adults and, for the first time, explored the moderating effect of gender, in an online survey.
Results
Overall, camouflaging was associated with greater symptoms of generalised anxiety, depression, and social anxiety, although only to a small extent beyond the contribution of autistic traits and age. Camouflaging more strongly predicted generalised and social anxiety than depression. No interaction between camouflaging and gender was found.
Limitations
These results cannot be generalised to autistic people with intellectual disability, or autistic children and young people. The sample did not include sufficient numbers of non-binary people to run separate analyses; therefore, it is possible that camouflaging impacts mental health differently in this population.
Conclusions
The findings suggest that camouflaging is a risk factor for mental health problems in autistic adults without intellectual disability, regardless of gender. We also identified levels of camouflaging at which risk of mental health problems is highest, suggesting clinicians should be particularly aware of mental health problems in those who score at or above these levels.
Tập 12 Số 1
Prenatal versus postnatal sex steroid hormone effects on autistic traits in children at 18 to 24 months of age
Tập 3 Số 1 - Trang 17 - 2012