Transcriptomics

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Gene expression in a mouse model of Pantothenate Kinase-Associated Neurodegeneration


ABSTRACT: A mouse model lacking systemic expression of Pank1 together with neuronal deletion of Pank2 was generated and revealed a developmental requirement for CoA that, when deficient, resulted in abnormal motor behavior preceding early death. Neuronal Pank2 expression in Pank1-/-Syn-Pank2-/- double knockout mice (dKO) decreased starting at P9-11 and brain CoA levels did not increase subsequently, in contrast to wild-type matched control animals. The Pank1-/-Syn-Pank2-/- dKO mice developed a forelimb deformity and abnormal gait behavior, similar to PKAN patients, and lost weight when brain CoA became depressed relative to wild-type levels. Comparative gene expression analysis revealed significant alteration of a relatively small selection of genes, including reduction of gene transcripts affecting heme and hemoglobin synthesis together with upregulation of gene transcripts related to the response to oxygen/glucose deprivation.

ORGANISM(S): Mus musculus

PROVIDER: GSE130705 | GEO | 2020/01/28

REPOSITORIES: GEO

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