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- W2000732669 abstract "Loss of function of voltage-dependent L-type calcium channels (VDCC) in patients with Timothy syndrome results in a multiorgan dysfunction including lethal arrhythmias, immune deficiency, skeleton-dysplasia, syndactylia and autism. This single gene disorder serves as a model disease for autism spectrum disease (ASD), giving insights in a possible pathophysiology. A point mutation in the pore-forming calcium channel subunit CaV1.2 gene is involved in the development of the Timothy syndrome and leads to incomplete inactivation of the L-type calcium currents (Splawski et al., Cell 2004;119:19-31). Functionally similar biophysical effects can be induced by the influence of auxiliary VDCC β subunits (Herzig et al., FASEB J. 2007;21:1527-38; Jangsangthong et al., Pflugers Arch. 2010;459:399-411).Supported by findings in a meta-analysis of linkage data of ASD patients (Trikalinos et al., Mol Psychiatry. 2006;11:29-36), we are investigating a function-based candidate gene hypothesis linking the β2 subunit gene (CACNB2) with ASD. We performed a case control study sequencing all exons and flanking introns of CACNB2 in 155 patients. We found three rare missense mutations in ASD patients, but not in 259 unaffected controls. All three occur at highly conserved positions and might alter protein function; additionally one mutation probably introduces a new phosphorylation site. Until now, we characterized two of these mutations and a phosphorylation-mimicking mutant in electrophysiological studies. All variants show a decelerated and incomplete time-dependent inactivation of the co-transfected CaV1.2 subunit. So far two variants exhibit a significant increased slope factor of voltage-dependent steady-state inactivation.We here present mutations in the β2 subunit gene of ASD patients that result in a retardation of inactivation behavior, thus phenocopying the monogenic Timothy syndrome mutations of CaV1.2. β2 subunit mutations may influence neuronal function or development in some ASD patients." @default.
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- W2000732669 date "2012-01-01" @default.
- W2000732669 modified "2023-09-29" @default.
- W2000732669 title "Rare Missense Mutations in the Calcium Channel β2 Subunit Gene of Autistic Patients Reduce Time-Dependent Inactivation of CaV1.2" @default.
- W2000732669 doi "https://doi.org/10.1016/j.bpj.2011.11.695" @default.
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