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- Durand, Christelle M, et al.
(author)
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Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders.
- 2006
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In: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication of the International Society of Psychiatric Genetics. - : Wiley. - 1552-4841. ; 141:1, s. 67-70
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Journal article (peer-reviewed)abstract
- Synaptogenesis, the formation of functional synapses, is a crucial step for the development of the central nervous system. Among the genes involved in this process are cell adhesion molecules, such as protocadherins and neuroligins, which are essential factors for the identification of the appropriate partner cell and the formation of synapses. In this work, we studied the expression and the genetic variability of two closely related members of the protocadherin family PCDH11X/Y, located on the X and the Y chromosome, respectively. PCDH11Y is one of the rare genes specific to the hominoid lineage, being absent in other primates. Expression analysis indicated that transcripts of the PCDH11X/Y genes are mainly detected in the cortex of the human brain. Mutation screening of 30 individuals with autism identified two PCDH11Y polymorphic amino acid changes, F885V and K980N. These variations are in complete association, appeared during human evolution approximately 40,000 years ago and represent informative polymorphisms to study Y chromosome variability in populations. We studied the frequency of these variants in males with autism spectrum disorders (n = 110), attention deficit hyperactivity disorder (ADHD; n = 61), bipolar disorder (n = 61), obsessive-compulsive disorder (n = 51), or schizophrenia (n = 61) and observed no significant differences when compared to ethnically-matched control populations. These findings do not support the role of PCDH11Y, or more generally of a frequent specific Y chromosome, in the susceptibility to these neuropsychiatric disorders.
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- Durand, Christelle. M., et al.
(author)
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Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
- 2007
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 39:1, s. 25-27
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Journal article (peer-reviewed)abstract
- SHANK3 (also known as ProSAP2) regulates the structural organization of dendritic spines and is a binding partner of neuroligins; genes encoding neuroligins are mutated in autism and Asperger syndrome. Here, we report that a mutation of a single copy of SHANK3 on chromosome 22q13 can result in language and/or social communication disorders. These mutations concern only a small number of individuals, but they shed light on one gene dosage-sensitive synaptic pathway that is involved in autism spectrum disorders.
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- Melke, Jonas, 1971, et al.
(author)
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Abnormal melatonin synthesis in autism spectrum disorders.
- 2008
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In: Molecular Psychiatry. - : Springer Science and Business Media LLC. - 1359-4184 .- 1476-5578. ; 13:1, s. 90-98
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Journal article (peer-reviewed)abstract
- Melatonin is produced in the dark by the pineal gland and is a key regulator of circadian and seasonal rhythms. A low melatonin level has been reported in individuals with autism spectrum disorders (ASD), but the underlying cause of this deficit was unknown. The ASMT gene, encoding the last enzyme of melatonin synthesis, is located on the pseudo-autosomal region 1 of the sex chromosomes, deleted in several individuals with ASD. In this study, we sequenced all ASMT exons and promoters in individuals with ASD (n=250) and compared the allelic frequencies with controls (n=255). Non-conservative variations of ASMT were identified, including a splicing mutation present in two families with ASD, but not in controls. Two polymorphisms located in the promoter (rs4446909 and rs5989681) were more frequent in ASD compared to controls (P=0.0006) and were associated with a dramatic decrease in ASMT transcripts in blood cell lines (P=2 x 10(-10)). Biochemical analyses performed on blood platelets and/or cultured cells revealed a highly significant decrease in ASMT activity (P=2 x 10(-12)) and melatonin level (P=3 x 10(-11)) in individuals with ASD. These results indicate that a low melatonin level, caused by a primary deficit in ASMT activity, is a risk factor for ASD. They also support ASMT as a susceptibility gene for ASD and highlight the crucial role of melatonin in human cognition and behavior.
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- Plusquellec, Pierrich, et al.
(author)
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Pilot study on the effects of the DeStresse et Progresse program for 6th grade children integrated in a secondary school
- 2015
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In: Éducation et Francophonie. - : Consortium Erudit. - 0849-1089 .- 1916-8659. ; 43:2, s. 6-29
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Journal article (peer-reviewed)abstract
- Selon des études précédentes, l’événement que représente la transition du primaire au secondaire suscite une augmentation significative de cortisol (hormone de stress) chez les adolescents. Le programme DéStresse et Progresse est un programme de prévention du stress et de ses troubles associés, issu des travaux réalisés ces dernières années dans le domaine de la biologie du stress. Ce programme, testé et validé auprès d’adolescents en première année de l’école secondaire, a montré des effets significatifs sur le niveau de cortisol et sur le niveau de symptômes dépressifs des jeunes les plus à risque. La présente étude a pour objectif d’évaluer les effets du programme sur un groupe restreint de sujets vivant leur dernière année du primaire, mais dans une structure particulière, puisque ce groupe est déjà intégré à une école secondaire. Quarante-neuf sujets, répartis dans deux classes, ont donc participé à une étude selon un devis prétest / post-test à mesures répétées. Contrairement à ce qui était attendu, les résultats montrent une augmentation moyenne significative de cortisol salivaire au cours de notre étude, augmentation qui pourrait être attribuée à la transition précoce résultant de l’intégration de notre échantillon à l’école secondaire. Par contre, une amélioration des performances cognitives et de l’estime de soi ainsi qu’une diminution des symptômes dépressifs pour l’ensemble des élèves peuvent être suggérés à la suite du programme.
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