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Mouse model of rare TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models.

Abstract：

:Rare de novo mutations in genes associated with inherited Mendelian disorders are potential contributors to sporadic disease. DYT1 dystonia is an autosomal dominant, early-onset, generalized dystonia associated with an in-frame, trinucleotide deletion (n. delGAG, p. ΔE 302/303) in the Tor1a gene. Here we examine the significance of a rare missense variant in the Tor1a gene (c. 613T>A, p. F205I), previously identified in a patient with sporadic late-onset focal dystonia, by modeling it in mice. Homozygous F205I mice have motor impairment, reduced steady-state levels of TorsinA, altered corticostriatal synaptic plasticity, and prominent brain imaging abnormalities in areas associated with motor function. Thus, the F205I variant causes abnormalities in domains affected in people and/or mouse models with the DYT1 Tor1a mutation (ΔE). Our findings establish the pathological significance of the F205I Tor1a variant and provide a model with both etiological and phenotypic relevance to further investigate dystonia mechanisms.

journal_name

Neurobiol Dis

journal_title

Neurobiology of disease

authors

Bhagat SL,Qiu S,Caffall ZF,Wan Y,Pan Y,Rodriguiz RM,Wetsel WC,Badea A,Hochgeschwender U,Calakos N

doi

10.1016/j.nbd.2016.05.003

subject

Has Abstract

pub_date

2016-09-01 00:00:00

pages

137-45

eissn

0969-9961

issn

1095-953X

pii

S0969-9961(16)30094-8

journal_volume

93

pub_type

杂志文章

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