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Göteborgs universitets publikationer

Key role for gene dosage and synaptic homeostasis in autism spectrum disorders.

Författare och institution:
Roberto Toro (-); Marina Konyukh (-); Richard Delorme (-); Claire Leblond (-); Pauline Chaste (-); Fabien Fauchereau (-); Mary Coleman (-); Marion Leboyer (-); Christopher Gillberg (Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi); Thomas Bourgeron (-)
Publicerad i:
Trends in Genetics, 26 ( 8 ) s. 363-372
Artikel, forskningsöversikt
Sammanfattning (abstract):
Autism spectrum disorders (ASD) are characterized by impairments in reciprocal social communication, and repetitive, stereotyped verbal and non-verbal behaviors. Genetic studies have provided a relatively large number of genes that constitute a comprehensive framework to better understand this complex and heterogeneous syndrome. Based on the most robust findings, three observations can be made. First, genetic contributions to ASD are highly heterogeneous and most probably involve a combination of alleles with low and high penetrance. Second, the majority of the mutations apparently affect a single allele, suggesting a key role for gene dosage in susceptibility to ASD. Finally, the broad expression and function of the causative genes suggest that alteration of synaptic homeostasis could be a common biological process associated with ASD. Understanding the mechanisms that regulate synaptic homeostasis should shed new light on the causes of ASD and could provide a means to modulate the severity of the symptoms.
Ämne (baseras på Högskoleverkets indelning av forskningsämnen):
Klinisk medicin ->
Psykiatri ->
Barn- och ungdomspsykiatri
Animals, Child, Child Development Disorders, Pervasive, Genetics, Gene Dosage, Genetic Predisposition to Disease, Homeostasis, Humans, Synapses, Genetics
Postens nummer:
Posten skapad:
2011-04-18 11:51
Posten ändrad:
2012-08-21 10:46

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