Functional Impact of the G279S Substitution in the Adenosine A₁-Receptor (A₁R-G279S^7.44), a Mutation Associated with Parkinson's Disease.

ABSTRACT: In medium-size, spiny striatal neurons of the direct pathway, dopamine D₁- and adenosine A₁-receptors are coexpressed and are mutually antagonistic. Recently, a mutation in the gene encoding the A₁-receptor (A₁R), A₁R-G279S^7.44, was identified in an Iranian family: two affected offspring suffered from early-onset l-DOPA-responsive Parkinson's disease. The link between the mutation and the phenotype is unclear. Here, we explored the functional consequence of the G279S substitution on the activity of the A₁-receptor after heterologous expression in HEK293 cells. The mutation did not affect surface expression and ligand binding but changed the susceptibility to heat denaturation: the thermodynamic stability of A

SUBMITTER: Nasrollahi-Shirazi S 

PROVIDER: S-EPMC7116137 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature