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Neurogenetics : Volume 13, Issue 1, February 2012

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Axonal transport deficit in a KIF5A –/– mouse model

Content Provider	Springer Nature Link
Author	Karle, Kathrin N. Möckel, Diana Reid, Evan Schöls, Ludger
Copyright Year	2012
Abstract	Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder preferentially affecting the longest corticospinal axons. More than 40 HSP genetic loci have been identified, among them SPG10, an autosomal dominant HSP caused by point mutations in the neuronal kinesin heavy chain protein KIF5A. Constitutive KIF5A knockout (KIF5A –/– ) mice die early after birth. In these mice, lungs were unexpanded, and cell bodies of lower motor neurons in the spinal cord swollen, but the pathomechanism remained unclear. To gain insights into the pathophysiology, we characterized survival, outgrowth, and function in primary motor and sensory neuron cultures from KIF5A –/– mice. Absence of KIF5A reduced survival in motor neurons, but not in sensory neurons. Outgrowth of axons and dendrites was remarkably diminished in KIF5A –/– motor neurons. The number of axonal branches was reduced, whereas the number of dendrites was not altered. In KIF5A –/– sensory neurons, neurite outgrowth was decreased but the number of neurites remained unchanged. In motor neurons maximum and average velocity of mitochondrial transport was reduced both in anterograde and retrograde direction. Our results point out a role of KIF5A in process outgrowth and axonal transport of mitochondria, affecting motor neurons more severely than sensory neurons. This gives pathophysiological insights into KIF5A associated HSP, and matches the clinical findings of predominant degeneration of the longest axons of the corticospinal tract.
Starting Page	169
Ending Page	179
Page Count	11
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	13
Issue Number	2
e-ISSN	13646753
Language	English
Publisher	Springer-Verlag
Publisher Date	2012-04-01
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Motor neuron KIF5A Axonal transport Axonal outgrowth Mitochondria Hereditary spastic paraplegia (HSP) Molecular Medicine Neurosciences Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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