abstract |
An assay for a behavioural disorder characterised by anxiety, such as OCD, and/or a lipid and/or a lipid-associated liver disorder (hereinafter "the conditions"), comprising assessing the level or activity of an analyte selected from ATP13A2 polypeptide, ATP13A2 nucleic acid, Mn 2+ , and a complex comprising ATP13A2 polypeptide and Mn 2+ , wherein the level or activity of the analyte indicates that the test subject has or is susceptible to the conditions. A method of treatment or prevention employing the assessment assays or ATP13A2 polypeptide or ATP13A2 nucleic acid. ATP13A2 polypeptide or ATP13A2 nucleic acid for use in the treatment or prevention of the conditions wherein the ATP13A2 polypeptide or ATP13A2 nucleic acid increases the level of mitochondrial Mn 2+ in subjects exhibiting a low level of mitochondrial Mn 2+. An isolated cell or organism comprising same, wherein the activity of ATP13A2 polypeptide is modified, such as reduced or inhibited (ablated). An assay for agents that complement the phenotype an ATP13A2 deficient cell or non-human organism comprising such cells, the assay comprising contacting the cell or organism with a putative agent and assessing the ability of the agent to increase the level of mitochondrial Mn 2+ in the cell. An assay for agents that modulate Mn 2+ levels in a cell or organism, the assay comprising contacting the cell or organism with a putative agent and assessing the ability of the agent to increase the level or activity of ATP13A2 in the cell or organism. |