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Abstract #1211

Cerebral metabolic derangements as translatable biomarkers in pantothenate kinase-associated neurodegeneration mouse model via 1H MRS

Puneet Bagga1, Jeffrey Steinberg2, Walter Akers2, Zoltan Patay1, Beth McCarville1, Chitra Subramanian3, Charles O Rock3, and Suzanne Jackowski3
1Department of Diagnostic Imaging, St Jude Children's Research Hospital, Memphis, TN, United States, 2Center for In Vivo Imaging and Therapeutics (CIVIT), St Jude Children's Research Hospital, Memphis, TN, United States, 3Department of Infectious Diseases, St Jude Children's Research Hospital, Memphis, TN, United States

Pantothenate kinase (PanK) is a metabolic enzyme that is the first and rate-controlling step in the only pathway for cellular coenzyme A (CoA) biosynthesis. A rare, life-threatening neurological disorder known as pantothenate kinase-associated neurodegeneration (PKAN), formerly known as Hallervorden-Spatz disease, arises from mutations in the human PANK2 gene. Here, we studied the neurochemical effects of a drug capable of allosterically activating PanK protein isoforms as a potential PKAN therapeutic. We applied 1HMRS to quantify changes in cerebral metabolites including Glx, GABA, lactate, and NAA in a mouse model of CoA deficiency employing the neuron-specific deletion of Pank1 and Pank2 genes.

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