Traduction: G.M.
Nat Neurosci. 2016 Oct 26;19(11):1408-1417. doi: 10.1038/nn.4420.
Lessons learned from studying syndromic autism spectrum disorders
Sztainberg Y1,2, Zoghbi HY1,3,4.
Author information
- 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
- 2Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas, USA.
- 3Department of Neuroscience, Baylor College of Medicine, Houston, Texas, USA.
- 4Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas, USA.
Abstract
Les
troubles du spectre de l'autisme syndromiques représentent un groupe d'états neurologiques de l'enfance, généralement associée à des anomalies
chromosomiques ou des mutations dans un seul gène. La
découverte de leurs causes génétiques a augmenté notre compréhension
des voies moléculaires cruciales pour le développement cognitif et
social habituel. Des études
sur l'homme ont montré que le cerveau est particulièrement sensible aux
variations dans le dosage de différentes protéines de régulation
transcriptionnelles et traductionnelles des protéines synaptiques. Les
enquêtes sur ces troubles chez l'animal ont mis en lumière sur les
mécanismes pathogènes jusqu'alors inconnus conduisant à l'identification
des cibles potentielles pour une intervention thérapeutique. La
démonstration de la réversibilité de plusieurs phénotypes chez la
souris adulte est encourageante et apporte l'espoir que, avec des
thérapies nouvelles, les compétences et la fonctionnalité pourraient
s'améliorer chez les enfants et les jeunes adultes touchés . Comme de nouvelles recherches révèlent des points de convergence entre les
troubles du spectre de l'autisme syndromiques et non syndromiques, nous
croyons qu'il y aura des possibilités de traitements communs pour cette
classe de conditions.
Syndromic autism spectrum disorders represent a group of childhood neurological conditions, typically associated with chromosomal abnormalities or mutations in a single gene. The discovery of their genetic causes has increased our understanding of the molecular pathways critical for normal cognitive and social development. Human studies have revealed that the brain is particularly sensitive to changes in dosage of various proteins from transcriptional and translational regulators to synaptic proteins. Investigations of these disorders in animals have shed light on previously unknown pathogenic mechanisms leading to the identification of potential targets for therapeutic intervention. The demonstration of reversibility of several phenotypes in adult mice is encouraging, and brings hope that with novel therapies, skills and functionality might improve in affected children and young adults. As new research reveals points of convergence between syndromic and nonsyndromic autism spectrum disorders, we believe there will be opportunities for shared therapeutics for this class of conditions.
Syndromic autism spectrum disorders represent a group of childhood neurological conditions, typically associated with chromosomal abnormalities or mutations in a single gene. The discovery of their genetic causes has increased our understanding of the molecular pathways critical for normal cognitive and social development. Human studies have revealed that the brain is particularly sensitive to changes in dosage of various proteins from transcriptional and translational regulators to synaptic proteins. Investigations of these disorders in animals have shed light on previously unknown pathogenic mechanisms leading to the identification of potential targets for therapeutic intervention. The demonstration of reversibility of several phenotypes in adult mice is encouraging, and brings hope that with novel therapies, skills and functionality might improve in affected children and young adults. As new research reveals points of convergence between syndromic and nonsyndromic autism spectrum disorders, we believe there will be opportunities for shared therapeutics for this class of conditions.
- PMID: 27786181
- DOI: 10.1038/nn.4420
