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Title: The emerging role of the inwardly rectifying K+ channels in autism spectrum disorders and epilepsy
Authors: D’Adamo, Maria Cristina
Moro, Francesca
Imbrici, Paola
Martino, Dianda
Roscini, Mauro
Santorelli, Filippo Maria
Sicca, Federico
Pessia, Mauro
Keywords: Autism -- Diagnosis
Child development disorders, Pervasive
Epilepsy -- Etiology
Potassium channels
Issue Date: 2011
Publisher: Malta Medical Journal
Citation: Malta Medical Journal. 2011, Vol.23(3), p. 10-14
Abstract: Autism is a complex behavioral disorder that develops prior to age three years and is distinguished by high heritability. Many genes predisposing to autism spectrum disorders (ASDs) have been identified. These findings have demonstrated that ASDs are etiologically heterogeneous; although, the mutations underlying ASDs are identifiable only in a minority of patients. Indeed, the causes of ASDs are unknown in more than 70% of patients. Recently, we have described two unrelated families whose affected individuals display a characteristic triad of symptoms of autism; such as impairments in social interaction, impairments in communication, restricted interests and repetitive behavior. They also displayed other symptoms commonly observed in autistic individuals; such as gait imbalance, clumsiness, mental retardation and epilepsy. The genetic analysis of these families resulted in the identification of new heterozygous point mutations in the KCNJ10 gene that encodes the inwardly-rectifying K+ channel Kir4.1 expressed predominantly, but not exclusively, in astrocytes. Functionally, the mutated channels exhibited a phenotype consistent with gain-of-function defects. These new findings highlight the emerging role of inwardly-rectifying K+ channels and astrocyte dysfunction in autism spectrum disorders associated with epilepsy.
Appears in Collections:MMJ, Volume 23, Issue 3
MMJ, Volume 23, Issue 3

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