Search results for "Mental disorder"

Using Zebrafish to Model Autism Spectrum Disorder: A Comparison of ASD Risk Genes Between Zebrafish and Their Mammalian Counterparts.

2020

Autism spectrum disorders (ASDs) are a highly variable and complex set of neurological disorders that alter neurodevelopment and cognitive function, which usually presents with social and learning impairments accompanied with other comorbid symptoms like hypersensitivity or hyposensitivity, or repetitive behaviors. Autism can be caused by genetic and/or environmental factors and unraveling the etiology of ASD has proven challenging, especially given that different genetic mutations can cause both similar and different phenotypes that all fall within the autism spectrum. Furthermore, the list of ASD risk genes is ever increasing making it difficult to synthesize a common theme. The use of ro…

Modulating disease-relevant tau oligomeric strains by small molecules

2020

The pathological aggregation of tau plays an important role in Alzheimer's disease and many other related neurodegenerative diseases, collectively referred to as tauopathies. Recent evidence has demonstrated that tau oligomers, small and soluble prefibrillar aggregates, are highly toxic due to their strong ability to seed tau misfolding and propagate the pathology seen across different neurodegenerative diseases. We previously showed that novel curcumin derivatives affect preformed tau oligomer aggregation pathways by promoting the formation of more aggregated and nontoxic tau aggregates. To further investigate their therapeutic potential, we have extended our studies o disease-relevant bra…

Influence of fetal glutathione S-transferase copy number variants on adverse reproductive outcomes

2012

A nested case-control association study was designed to investigate the influence of maternal and fetal copy number variants (CNVs) on reproductive outcomes. Genotypes of ten CNVs encompassing GST and CYP genes were assessed. Significant associations were only found for child CNV genotypes. In particular, the child GSTM1 insertion allele was associated with prematurity protection (odds ratio, 95% CI: 0.67, 0.51-0.89; P < 0.01), whereas the child GSTT2B insertion allele was associated with an increased risk of being small for gestational age (odds ratio, 95% CI: 1.33, 1.07-1.67; P = 0.01). The study highlights the role of the fetal genome in prenatal development and also the need to analyse …

2021

The CMS4 mesenchymal subtype of colorectal cancer (CRC) is associated with poor prognosis and resistance to treatment. The cellular prion protein PrPC is overexpressed in CMS4 tumors and controls the expression of a panel of CMS4-specific genes in CRC cell lines. Here, we sought to investigate PrPC downstream pathways that may underlie its role in CMS4 CRC. By combining gene set enrichment analyses and gain and loss of function approaches in CRC cell lines, we identify the integrin-linked kinase ILK as a proximal effector of PrPC that mediates its control on the CMS4 phenotype. We further leveraged three independent large CRC cohorts to assess correlations in gene expression pattern with pa…

Stage-specific control of oligodendrocyte survival and morphogenesis by TDP-43

2021

AbstractGeneration of oligodendrocytes in the adult brain enables both adaptive changes in neural circuits and regeneration of myelin sheaths destroyed by injury, disease, and normal aging. This transformation of oligodendrocyte precursor cells (OPCs) into myelinating oligodendrocytes requires processing of distinct mRNAs at different stages of cell maturation. Although mislocalization and aggregation of the RNA binding protein TDP-43 occur in both neurons and glia in neurodegenerative diseases, the consequences of TDP-43 loss within different stages of the oligodendrocyte lineage are not well understood. By performing stage-specific genetic inactivation of Tardbp in vivo, we show that olig…

Le goût sucré, de l’enfance… à la dépendance ?

2013

Summary: Can one talk about addiction to sugar? Sugar is an important part of our diet, and an important source of pleasure, as of a young age. The definition of addiction involves that addictive substances act on the reward circuit, and lead to two symptoms, withdrawal and tolerance. Is it the case with sugar? According to the literature, brain activations in regions involved in the reward circuit are observed in response to “sugar”, and they differ according to the type of sugar (caloric carbohydrates, sweet or not; sweeteners). Besides, withdrawal and tolerance symptoms are not well characterized: food cravings often concern sweet foods, but there is a decrease with age of the preference…

Exploring the profiles of children with autism spectrum disorder: association with family factors.

2019

This study aimed to identify different profiles of children with autism spectrum disorder (ASD) without intellectual disability (ID) and maternal factors characteristic of these profiles. Participants were 89 children between 7 and 11 years old and their mothers, distributed in two groups, 52 children with ASD and 37 with typical development (TD). Based on the children’s adaptive, behavioral, and pragmatic manifestations, three clusters were obtained in the ASD group. Children with the most serious difficulties in all the domains assessed were assigned to Cluster 1, whereas the children in Cluster 3 were characterized by relatively minor problems. Cluster 2 comprised children with moderate …

A Review of the State-of-the-Art of Assistive Technology for People with ASD in the Workplace and in Everyday Life

2019

Part 8: Digital Divide and Social Inclusion; International audience; Autism, also known as autism spectrum disorder (ASD), is an incurable brain-based disorder that refers to a wide range of complex neurodevelopment disorders characterised by marked difficulties in communication and social skills, repetitive behaviour, highly focused interests and sensory sensitivity. Autism can present challenges for affected people at the work environment and in everyday life. The barrier for individuals with ASD increases further with changing environmental situations. Individuals with ASD have limited abilities to isolate their Five senses and often experience over- or under-sensitivity to sounds, touch…

The cholinergic system in Down's syndrome

2006

The cholinergic system is one of the most important modulatory neurotransmitter systems in the brain. Alterations of the transmission communicators are accompanied by reduction of the cortical activity, which is associated with a learning and memory deficit. Down's syndrome is a pathological condition characterized by a high number of abnormalities that involve the brain.The cholinergic system is involved in alterations of the neurological system such as severe learning difficulties.To explain these alterations, important results are obtained from studies about murine trisomy 16 (animal model of Down's syndrome).The results obtained provide useful elements in the improvement of knowledge ab…

DESARROLLO EVOLUTIVO Y SEVERIDAD DEL TRASTORNO DEL ESPECTRO AUTISTA EN NIÑOS: RELACIÓN CON EL CI

2016

El Trastorno del Espectro Autista (TEA) es un trastorno del neurodesarrollo que se caracteriza principalmente por la alteración en el área de la comunicación social. Es importante su identificación temprana para su intervención. Nuestro estudio pretende estudiar qué áreas del desarrollo están más afectadas y su relación con la severidad del diagnóstico. Para ello participaron 51 familias con niños con diagnóstico clínico de Trastorno del Espectro Autista. Se administraron pruebas de CI verbal y no-verbal, el test Gars-2 y el Inventario de Desarrollo de la Battelle. Los resultados mostraron que las áreas de comunicación expresiva y personal/social estaban más deterioradas en los sujetos de l…