Variants of aminoacyl‐tRNA synthetase genes in Charcot‐Marie‐Tooth disease: a Korean cohort study

2021 ◽  
Author(s):  
Da Eun Nam ◽  
Jin Hee Park ◽  
Cho Eun Park ◽  
Na Young Jung ◽  
Soo Hyun Nam ◽  
...  
Keyword(s):  
Cohort Study ◽  
Trna Synthetase ◽  
Aminoacyl Trna Synthetase ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals A novel mutation in glycyl-tRNA synthetase caused Charcot-Marie-Tooth disease type 2D with facial and respiratory muscle involvement

2014 ◽  
Vol 54 (11) ◽  
pp. 911-915 ◽  
Author(s):  
Nobuko Kawakami ◽  
Kenichi Komatsu ◽  
Hirofumi Yamashita ◽  
Kengo Uemura ◽  
Nobuyuki Oka ◽  
...  
Keyword(s):  
Respiratory Muscle ◽  
Novel Mutation ◽  
Trna Synthetase ◽  
Disease Type ◽  
Muscle Involvement ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Falls in paediatric Charcot-Marie-Tooth disease: a 6-month prospective cohort study

2018 ◽  
Vol 104 (6) ◽  
pp. 535-540 ◽  
Author(s):  
Rachel A Kennedy ◽  
Kate Carroll ◽  
Graham Hepworth ◽  
Kade L Paterson ◽  
Monique M Ryan ◽  
...  
Keyword(s):  
Cohort Study ◽  
Children And Adolescents ◽  
Prospective Cohort Study ◽  
Prospective Cohort ◽  
Common Mechanism ◽  
Charcot Marie Tooth ◽  
Paediatric Hospital ◽  
Charcot Marie Tooth Disease ◽  
Injurious Falls ◽  
Tooth Disease

ObjectiveTo prospectively study falls in children and adolescents with Charcot-Marie-Tooth disease (CMT).DesignProspective cohort study.SettingNeuromuscular outpatient clinic of a tertiary paediatric hospital.PatientsSixty children and adolescents (‘children’) aged 4–18 years, 30 with CMT and 30 typically developing (TD).Main outcome measuresFalls rate over 6 months and falls characteristics questionnaire.ResultsTwenty-two children with CMT reported falling at least once in 6 months compared with eight TD children (CMT 2819 (0–1915), TD 31 (0–6) total falls (range)). Detailed falls characteristics were collected from 242 individual falls (CMT 216, TD 26). Injurious falls were reported by 19 children with CMT (74 falls) compared with 2 TD children (3 falls), with cuts, grazes and bruising most common. No fractures were sustained and no child required hospitalisation. However, 12 injuries from falls in children with CMT required management by a healthcare provider, versus none in TD children. Tripping was the most common mechanism of falls in both groups. Age was the strongest predictor of falls (ρ=−0.53, p=0.006) with all children (CMT and TD) aged <7 years falling. Balance was the strongest impairment-related predictor of falls (ρ=−0.47, p=0.02). The conservative estimate of risk of falls in children and adolescents with CMT was 33 times higher than their TD peers (incidence rate ratio=32.8, 95% CI 10.2 to 106.0).ConclusionsChildren and adolescents with CMT fall more often than TD peers and sustain more injuries when they fall.

scholarly journals Pregnancy outcome in Charcot–Marie–Tooth disease: results of the CMT‐NET cohort study in Germany

2020 ◽  
Vol 27 (8) ◽  
pp. 1390-1396
Author(s):  
S. Rudnik‐Schöneborn ◽  
S. Thiele ◽  
M. C. Walter ◽  
L. Reinecke ◽  
M. Sereda ◽  
...  
Keyword(s):  
Cohort Study ◽  
Pregnancy Outcome ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

2003 ◽  
Vol 72 (5) ◽  
pp. 1293-1299 ◽  
Author(s):  
Anthony Antonellis ◽  
Rachel E. Ellsworth ◽  
Nyamkhishig Sambuughin ◽  
Imke Puls ◽  
Annette Abel ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Trna Synthetase ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Spinal Muscular Atrophy Type ◽  
Charcot Marie Tooth Disease ◽  
Type V ◽  
Tooth Disease

scholarly journals SIRT2-knockdown Rescues GARS-induced Charcot-Marie-Tooth Neuropathy

2019 ◽  
Author(s):  
Chao Shen ◽  
Qian Qi ◽  
Yicai Qin ◽  
Dejian Zhou ◽  
Xinyuan Chen ◽  
...  
Keyword(s):  
Trna Synthetase ◽  
Nerve Degeneration ◽  
Loss Of Function ◽  
Wild Type ◽  
Partial Loss ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Underlying Mechanisms ◽  
Tooth Disease

AbstractCharcot-Marie-Tooth disease is the most common inherited peripheral neuropathy. Dominant mutations in glycyl-tRNA synthetase (GARS) gene cause peripheral nerve degeneration and lead to CMT disease type 2D. Mutations in GARS (GARSCMT2D) show partial loss-of-function features, suggesting that tRNA-charging deficits play a role in disease pathogenesis, but the underlying mechanisms are not fully understood. In this study we report that wild-type GARS tightly binds the NAD+-dependent deacetylase SIRT2 and inhibits its deacetylation activity, resulting in the hyperacetylated α-tubulin, the major substrate of SIRT2. Previous studies showed that acetylation of α-tubulin protects microtubules from mechanical breakage and keep axonal transportation. However, CMT2D mutations in GARS can not inhibit SIRT2 deacetylation, which leads to decrease acetylated α-tubulin and severe axonal transport deficits. Genetic reduction of SIRT2 in the Drosophila model rescues the GARS–induced axonal CMT neuropathy and extends the life span. Our findings demonstrate the pathogenic role of SIRT2-dependent α-tubulin deacetylation in mutant GARS-induced neuropathies and provide new perspectives for targeting SIRT2 as a potential therapy against hereditary axonopathies.

scholarly journals A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease

2010 ◽  
Vol 86 (1) ◽  
pp. 77-82 ◽  
Author(s):  
Philippe Latour ◽  
Christel Thauvin-Robinet ◽  
Chantal Baudelet-Méry ◽  
Pierre Soichot ◽  
Veronica Cusin ◽  
...  
Keyword(s):  
Trna Synthetase ◽  
Major Determinant ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)

2014 ◽  
Vol 35 (4) ◽  
pp. 512-512 ◽  
Author(s):  
Heather M. McLaughlin ◽  
Reiko Sakaguchi ◽  
William Giblin ◽  
Thomas E. Wilson ◽  
Leslie Biesecker ◽  
...  
Keyword(s):  
Trna Synthetase ◽  
Disease Type ◽  
Loss Of Function ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease
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