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Pubmed ID :27058446
Publication Date : //

Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy.


Deficits in the basal ganglia pathways modulating cortical motor activity underlie both Parkinson disease (PD) and Huntington disease (HD). Phosphodiesterase 10A (PDE10A) is enriched in the striatum, and animal data suggest that it is a key regulator of this circuitry. Here, we report on germline PDE10A mutations in eight individuals from two families affected by a hyperkinetic movement disorder due to homozygous mutations c.320A>G (p.Tyr107Cys) and c.346G>C (p.Ala116Pro). Both mutations lead to a reduction in PDE10A levels in recombinant cellular systems, and critically, positron-emission-tomography (PET) studies with a specific PDE10A ligand confirmed that the p.Tyr107Cys variant also reduced striatal PDE10A levels in one of the affected individuals. A knock-in mouse model carrying the homologous p.Tyr97Cys variant had decreased striatal PDE10A and also displayed motor abnormalities. Striatal preparations from this animal had an impaired capacity to degrade cyclic adenosine monophosphate (cAMP) and a blunted pharmacological response to PDE10A inhibitors. These observations highlight the critical role of PDE10A in motor control across species.

Authors : Diggle Christine P , Sukoff Rizzo Stacey J , Popiolek Michael , Hinttala Reetta , Schülke Jan-Philip , Kurian Manju A , Carr Ian M , Markham Alexander F , Bonthron David T , Watson Christopher , Sharif Saghira Malik , Reinhart Veronica , James Larry C , Vanase-Frawley Michelle A , Charych Erik , Allen Melanie , Harms John , Schmidt Christopher J , Ng Joanne , Pysden Karen , Strick Christine , Vieira Päivi , Mankinen Katariina , Kokkonen Hannaleena , Kallioinen Matti , Sormunen Raija , Rinne Juha O , Johansson Jarkko , Alakurtti Kati , Huilaja Laura , Hurskainen Tiina , Tasanen Kaisa , Anttila Eija , Marques Tiago Reis , Howes Oliver , Politis Marius , Fahiminiya Somayyeh , Nguyen Khanh Q , Majewski Jacek , Uusimaa Johanna , Sheridan Eamonn , Brandon Nicholas J ,

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