tRNA overexpression rescues peripheral neuropathy caused by mutations in tRNA synthetase

Science ◽  
2021 ◽  
Vol 373 (6559) ◽  
pp. 1161-1166 ◽  
Author(s):  
Amila Zuko ◽  
Moushami Mallik ◽  
Robin Thompson ◽  
Emily L. Spaulding ◽  
Anne R. Wienand ◽  
...  
2017 ◽  
Vol 45 (13) ◽  
pp. 8091-8104 ◽  
Author(s):  
David Blocquel ◽  
Sheng Li ◽  
Na Wei ◽  
Herwin Daub ◽  
Mathew Sajish ◽  
...  

2020 ◽  
Author(s):  
Bo Sun ◽  
Zheng-Qing He ◽  
Yan-Ran Li ◽  
Hong-Fen Wang ◽  
Fang Cui ◽  
...  

Abstract Background CMT2D is a rare subtype of axonal CMT, caused by the mutation of glycyl-tRNA synthetase (GARS) gene which is also a disease-causing gene of distal spinal muscular atrophy type V (dSMA-V) or hereditary motor neuropathy 5A (HMN5A). There were only several case reports in China, and no epidemiological study of CMT2D/ HMN5A yet.Methods We recruited the patients of Chinese Han descent clinically diagnosed with inherited peripheral neuropathy (IPN) from the Department of Neurology at Chinese PLA General Hospital (Beijing, China) from December 20, 2012 to July 31, 2019. All patients underwent a detailed medical history, neurological examination, laboratory examination, electrophysiological studies, and genetic testing.Results A total of 206 unrelated patients underwent genetic analysis, and we found four mutations of GARS from four different families, including c.794C>T (p.S265F), c.374A>G (p.E125G), c.1000A>T (p.I334F) and c.781T>G (p.Y261D), the first three of them were considered pathogenic. As for the three pathogenic mutation carriers, one patient was diagnosed as CMT2D, two patients were diagnosed as HMN5A.Conclusion GARS mutation is a rare cause of inherited peripheral neuropathy and the phenotype tends to be CMT2D or HMN5A. There might be a relatively higher mutation frequency in Asian population compared with Caucasians. Combination of clinical phenotype, auxiliary tests and genetic evidence to assess the pathogenicity of genetic variants in patients suspected as IPN is of vital importance.


2020 ◽  
Author(s):  
Bo Sun ◽  
Zhengqing He ◽  
Yanran Li ◽  
Hongfen Wang ◽  
Fei Yang ◽  
...  

Abstract BackgroundCMT2D is a rare subtype of axonal CMT, caused by a variant of the glycyl-tRNA synthetase (GARS) gene which is also a disease-causing gene of distal spinal muscular atrophy type V (dSMA-V) or hereditary motor neuropathy 5A (HMN5A). There were only several cases reported in China, all lacking an epidemiological study of CMT2D/ HMN5A.Methods206 patients of Chinese Han descent, clinically diagnosed with inherited peripheral neuropathy (IPN), were recruited in this study from December 20, 2012 to July 31, 2019. All patients underwent a detailed medical history screening, a neurological examination, a laboratory examination, several electrophysiological studies, and genetic testing.ResultsA total of 206 unrelated patients underwent genetic analysis. Four variants of GARS from four different families were found, including c.794C > T (p.S265F), c.374A > G (p.E125G), c.1000A > T (p.I334F), and c.781T > G (p.Y261D), with the first three being considered pathogenic. For the three pathogenic variant carriers, one was diagnosed with CMT2D, while the two others were diagnosed with HMN5A.ConclusionGARS mutation is a rare outcome of inherited peripheral neuropathy and the phenotype tends to be CMT2D or HMN5A.


Science ◽  
2021 ◽  
Vol 373 (6559) ◽  
pp. 1156-1161 ◽  
Author(s):  
E. L. Spaulding ◽  
T. J. Hines ◽  
P. Bais ◽  
A. L. D. Tadenev ◽  
R. Schneider ◽  
...  

2010 ◽  
Vol 87 (4) ◽  
pp. 560-566 ◽  
Author(s):  
Heather M. McLaughlin ◽  
Reiko Sakaguchi ◽  
Cuiping Liu ◽  
Takao Igarashi ◽  
Davut Pehlivan ◽  
...  

2017 ◽  
Vol 39 (3) ◽  
pp. 415-432 ◽  
Author(s):  
Jamie A. Abbott ◽  
Rebecca Meyer-Schuman ◽  
Vincenzo Lupo ◽  
Shawna Feely ◽  
Inès Mademan ◽  
...  

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