Motor deficits and hyperactivity in Dyt1 knockdown mice.
The DYT1 gene containing a trinucleotide deletion (DeltaGAG) is linked to early-onset dystonia, a neurological movement disorder of involuntary muscle contractions. To understand DYT1's contribution to dystonia, we produced and analyzed Dyt1 knockdown (KD) mice that expressed a reduced level of torsinA protein encoded by Dyt1. Knockdown mice exhibited deficits in motor control and a decreased trend in dopamine with a significant reduction in 3,4-dihydroxyphenylacetic acid. These alterations are similar to those displayed by previously reported Dyt1 DeltaGAG knockin heterozygous mice, suggesting that the partial loss of torsinA function contributes to the pathology of the disease.
Dang
Mai T
MT
Department of Molecular and Integrative Physiology, NeuroTech Group, Beckman Institute for Advanced Science and Technology, University of Illinois at Urbana-Champaign, Urbana, IL 61801, USA.
Yokoi
Fumiaki
F
Pence
Morgan A
MA
Li
Yuqing
Y
D015102:3,4-Dihydroxyphenylacetic Acid / Q000378:metabolism; D000483:Alleles; D000818:Animals; D015153:Blotting, Western; D004298:Dopamine / Q000378:metabolism; D005091:Exons / Q000235:genetics; D005822:Genetic Vectors; D005838:Genotype; D006719:Homovanillic Acid; D006948:Hyperkinesis / Q000235:genetics* / Q000503:physiopathology*; D051379:Mice; D018345:Mice, Knockout; D018832:Molecular Chaperones / Q000235:genetics* / Q000502:physiology*; D008995:Monoamine Oxidase / Q000378:metabolism; D009043:Motor Activity / Q000502:physiology; D017072:Neostriatum / Q000378:metabolism; D009468:Neuromuscular Diseases / Q000235:genetics* / Q000503:physiopathology; D012313:RNA / Q000096:biosynthesis; D012333:RNA, Messenger / Q000096:biosynthesis / Q000235:genetics; D012727:Sex Characteristics
C491548:Dyt1 protein, mouse; D018832:Molecular Chaperones; D012333:RNA, Messenger; D015102:3,4-Dihydroxyphenylacetic Acid; D012313:RNA; D008995:Monoamine Oxidase; D004298:Dopamine; D006719:Homovanillic Acid