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Maternal duplication of the 15q11.2-q13.3 region (15q dup) is linked to neurodevelopmental disorders. This study reveals specific cerebellar atrophy and motor deficits in mice with Eftud2 deletion in Purkinje cells, mimicking 15q dup symptoms.

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Maternal duplication of the 15q11.2-q13.3 region (15q dup) is associated with neurodevelopmental disorders, including motor and social deficits.
  • Purkinje cells (PCs) in the cerebellum are crucial for motor control and social behavior.
  • The precise molecular mechanisms underlying 15q dup phenotypes remain incompletely understood.

Purpose of the Study:

  • To investigate the role of Eukaryotic Translation Elongation Factor 2 Domain Containing 2 (Eftud2) in Purkinje cell development and function.
  • To determine if Eftud2 deletion in PCs recapitulates phenotypes observed in 15q dup patients.
  • To elucidate the molecular pathways affected by Eftud2 loss in PCs.

Main Methods:

  • Generation of mice with conditional deletion of Eftud2 specifically in Purkinje cells.
  • Phenotypic analysis including assessment of cerebellar structure, motor function, and social behavior.
  • Molecular analyses to examine gene splicing, protein expression, and cell death pathways.

Main Results:

  • Eftud2 deletion in PCs led to significant cerebellar atrophy.
  • Mice exhibited motor deficits and altered social behaviors, mirroring MFDM (Maternal duplication of the 15q11.2-q13.3 region) patient phenotypes.
  • Absence of Eftud2 resulted in mis-splicing of Activating Transcription Factor 4 (Atf4), reduced expression of Stearoyl-CoA Desaturase 1 (Scd1) and GTP Cyclohydrolase 1 (Gch1), and promoted ferroptosis-regulated PC death.

Conclusions:

  • Eftud2 is essential for Purkinje cell survival and function.
  • Loss of Eftud2 in PCs causes MFDM-like phenotypes through aberrant splicing and ferroptosis.
  • This study identifies a novel molecular mechanism linking Eftud2 deficiency to neurodevelopmental disorders.