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Pathogenic KIF1A variants differentially disrupt axonal trafficking and impede synaptic development.

Jayne Aiken1,2, Carris Borland1,3, Nicolas Marotta1,4,5

  • 1Department of Physiology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104 USA.

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Summary
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Mutations in KIF1A disrupt synaptic development and function in human neurons, impacting KIF1A-Associated Neurological Disorder (KAND) pathogenesis. Different mutations cause distinct molecular and functional deficits, revealing KIF1A

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Area of Science:

  • Neuroscience
  • Cell Biology
  • Genetics

Background:

  • Synaptic connections are crucial for nervous system function, but their formation during human neurodevelopment is not fully understood.
  • Long-distance transport of synaptic components by motors like KIF1A is vital for synapse development and maintenance.
  • Mutations in KIF1A cause KIF1A-Associated Neurological Disorder (KAND), a severe neurodevelopmental and neurodegenerative condition.

Purpose of the Study:

  • To investigate how different pathogenic KIF1A mutations affect synaptic trafficking and neuronal function using gene-edited human iPSCs.
  • To compare the molecular and functional consequences of KIF1A loss-of-function and gain-of-function variants.

Main Methods:

  • Utilized isogenic human induced pluripotent stem cells (iPSCs) engineered to express specific KIF1A variants.
  • Assessed neurite outgrowth, synaptic cargo localization, synapse density, and KIF1A motor activity.
  • Performed live imaging of synaptic vesicle precursor trafficking and neuronal activity recordings using multi-electrode arrays.

Main Results:

  • Loss-of-function KIF1A mutations (p.C92*, p.P305L) resulted in delayed neurite outgrowth, mislocalized synaptic components, and reduced synapse density.
  • A hyperactive KIF1A mutation (p.R350G) led to abnormal cargo motility and impaired axonal patterning of presynaptic elements.
  • Functional analyses showed delayed synaptic maturation for loss-of-function mutations and accelerated maturation with potential excitotoxicity for the hyperactive mutation.

Conclusions:

  • Pathogenic KIF1A variants exhibit distinct molecular impacts, leading to varied synaptic trafficking and function deficits in human neurons.
  • These findings provide crucial insights into the molecular mechanisms underlying KIF1A-Associated Neurological Disorder (KAND).
  • The study highlights the critical role of precise KIF1A motor activity in ensuring proper synaptic development and neuronal function.