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C9ORF72 expression and cellular localization over mouse development.

Rachel A K Atkinson1, Carmen M Fernandez-Martos1, Julie D Atkin2

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Researchers studied the C9ORF72 gene, linked to frontotemporal dementia and ALS. They found its protein isoforms change expression during development and are present in neuronal structures, including synapses, suggesting a role in neurological function.

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Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Familial frontotemporal lobar dementia and amyotrophic lateral sclerosis are often linked to repeat expansions in the C9ORF72 gene.
  • The normal function and expression patterns of C9ORF72 protein remain largely uncharacterized.
  • Understanding C9ORF72 is crucial for elucidating its role in neurodegenerative diseases.

Purpose of the Study:

  • To characterize the expression patterns of three mouse C9orf72 isoforms during development.
  • To determine the cellular localization of C9orf72 isoforms in neurons and brain tissue.
  • To investigate the potential role of C9orf72 in neuronal function and synaptic activity.

Main Methods:

  • Developmental time-course study in primary cultured cortical neurons and C57BL/6 mouse brain tissue.
  • Analysis of mRNA and protein expression levels of C9orf72 isoforms.
  • Cellular fractionation and immunofluorescence microscopy to assess protein localization.
  • Synaptosome preparation to identify C9orf72 presence in synaptic fractions.

Main Results:

  • C9ORF72 isoforms exhibit altered mRNA and protein expression during development and into adulthood.
  • Nuclear and cytoplasmic expression levels of C9orf72 isoforms significantly changed over the developmental time course.
  • C9ORF72 was observed as puncta in neurons, localized to actin-rich structures like filopodia and growth cones.
  • Synaptosome preparations confirmed the presence of C9ORF72 isoform 1 in synaptic-rich fractions of adult mouse brain.

Conclusions:

  • The punctate distribution and synaptic localization of C9ORF72 suggest a potential role at the synapse.
  • Differential expression of C9ORF72 isoforms in the nucleus and cytoplasm may indicate distinct functional roles.
  • Further research into the physiological role of C9ORF72 protein is essential for understanding its contribution to neurodegenerative diseases.