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SCA17 knock-in mice brain transcriptomes

ABSTRACT: To identify brain region specific proteins that contribute to brain region specific neurodegeneration, RNA sequencing was performed using cerebellum, striatum and prefrontal cortex tissues from 3-month-old SCA17 knock-in (KI) mice and wild-type (WT) littermates. We find 245 cerebellar specifically dysregulated genes (110 up-regulated genes and 145 down-regulated genes), 133 striatum specifically dysregulated genes (45 up-regulated genes and 88 down-regulated genes) and 17 prefrontal cortex specifically dysregulated genes (4 up-regulated genes and 13 down-regulated genes). Combined with other evidences, we demonstrate that cerebellum-enriched protein INPP5A contributes to selective neuropathology in mouse model of Spinocerebellar ataxias type 17

ORGANISM(S): Mus musculus

PROVIDER: GSE145067 | GEO | 2020/02/10

REPOSITORIES: GEO

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Project description:<p>Understanding the genetic factors that control brain growth during childhood and adolescence is a priority for neuroscience. Its importance lies partly in the finding that disturbances in the course of brain development characterizes many common childhood behavioral problems. Recent advances in neuroimaging such as the use of non-invasive magnetic resonance imaging have provided a chance to define these trajectories in the living child. The intramural programs of the NIMH and NHGRI have conducted repeated neuroanatomic imaging on children along with the banking of DNA, providing a cohort which is studied for defining developmental trajectories of the brain. A central goal of this cohort is to define the disturbances in brain development that are linked with common behavioral problems, such as excessive impulsivity, hyperactivity and inattention. Studies have demonstrated that problems in these domains are distributed across the entire population and that children with Attention Deficit Hyperactivity Disorder (ADHD) lie at the extreme end of these behavioral dimensions. We found a similar dimensionality in the development of brain regions that are associated with these behavioral problems. Specifically, we showed that the rate of change in both the lateral prefrontal cortex and interconnected striatum during childhood and adolescence was linked to the severity of symptoms of hyperactivity and impulsivity. As symptoms increased, the rate of growth of both structures decreased. The lateral prefrontal cortex and striatum are core components of richly interconnected 'loops' that support a host of cognitive processes, including attention, cognitive control and motor planning. Anomalies in these structures and their connections have been implicated in many childhood behavioral problems, including ADHD. In summary, we aim to identify the common and rare genetic variants that are associated with the developmental trajectories of the lateral-prefrontal cortex and striatum. Identifying genetic variants influencing the growth of these structures may reveal the biological mechanisms underlying dysregulated control of attention, impulse and activity level, which in the extreme constitute ADHD. The study thus could inform our understanding of neurobiology underpinning one of the most common neuropsychiatric disorders of childhood.</p>

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SCA17 knock-in mice brain transcriptomes

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