DCTN1 gene analysis in Chinese patients with sporadic amyotrophic lateral sclerosis

Liu, Xiangyi; Liu, Yang; Tang, Lu; Chen, Lu; Liu, Xiaolu

doi:10.1371/journal.pone.0182572

Cited by 21 publications

(13 citation statements)

References 26 publications

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“…Variants in SQSTM1 and OPTN were detected in around 1% of sALS Chinese patients respectively, but it will be necessary to carry out more functional studies to verify the pathogenicity of these variants (Chen et al, 2014; Li et al, 2015; Liu et al, 2016b; Yang et al, 2015). By contrast, mutations in some other genes previously reported to be linked to ALS, including VAPB, ANG, VCP, UBQLN2 and DCTN1 , had been found to be rare or absent in Chinese ALS patients (Huang et al, 2017; Liu et al, 2016b, 2017a; Soong et al, 2014; Zou et al, 2012, 2013b). In recent years, the development of whole exome sequencing (WES), expedited the discovery of ALS genes.…”

Section: Genetic Characteristics Of Chinese Als Patientsmentioning

confidence: 75%

The epidemiology and genetics of Amyotrophic lateral sclerosis in China

Liu

Gao

et al. 2018

Brain Research

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Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder associated with loss of motor neurons. Previous knowledge of the disease has been mainly based on studies from Caucasian ALS patients of European descent. Here we review the epidemiological characteristics of ALS among the Chinese population in order to compare the similarities and differences between Chinese ALS cases and those from other countries. We describe a potential lower incidence and prevalence of ALS, a younger age of onset and a lower proportion of familial ALS cases in the Chinese population. Additionally, we highlight potential genetic differences between Chinese and Caucasian ALS patients. Most notably, the frequency of GGGGCC repeat expansions in C9ORF72 in Chinese ALS is significantly lower than in Caucasians. Since some conclusions might not be consistent across all of the studies around China to date, we suggest that it is necessary to carry out a prospective population-based study and large-scale gene sequencing around to better define epidemiological and genetic features of Chinese ALS patients.

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Section: Genetic Characteristics Of Chinese Als Patientsmentioning

confidence: 75%

The epidemiology and genetics of Amyotrophic lateral sclerosis in China

Liu

Gao

et al. 2018

Brain Research

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“…These include tubulin α4A (Smith et al, 2014a; Perrone et al, 2017), a major component of microtubules, neurofilament heavy chain (Figlewicz et al, 1994), a type of intermediate filament, and profilin-1 (Wu et al, 2012; Dillen et al, 2013; Smith et al, 2014b), which is involved in actin polymerization. Similarly, dynactin-1, involved in axonal transport (Puls et al, 2003; Münch et al, 2004; Münch et al, 2005; Liu et al, 2017) and SCFD1 (Sec1 family domain containing 1), involved in ER to Golgi transport (van Rheenen et al, 2016), are also mutated in a small proportion of patients, further implying that protein transport is impaired in ALS/FTD.…”

Section: Intrinsic Factors Specific To Mn Subpopulationsmentioning

confidence: 99%

Motor Neuron Susceptibility in ALS/FTD

et al. 2019

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Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the death of both upper and lower motor neurons (MNs) in the brain, brainstem and spinal cord. The neurodegenerative mechanisms leading to MN loss in ALS are not fully understood. Importantly, the reasons why MNs are specifically targeted in this disorder are unclear, when the proteins associated genetically or pathologically with ALS are expressed ubiquitously. Furthermore, MNs themselves are not affected equally; specific MNs subpopulations are more susceptible than others in both animal models and human patients. Corticospinal MNs and lower somatic MNs, which innervate voluntary muscles, degenerate more readily than specific subgroups of lower MNs, which remain resistant to degeneration, reflecting the clinical manifestations of ALS. In this review, we discuss the possible factors intrinsic to MNs that render them uniquely susceptible to neurodegeneration in ALS. We also speculate why some MN subpopulations are more vulnerable than others, focusing on both their molecular and physiological properties. Finally, we review the anatomical network and neuronal microenvironment as determinants of MN subtype vulnerability and hence the progression of ALS.

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“…The dynactin subunit 1 ( DCTN1 ) and kinesin family member 5A ( KIF5A ) genes encode for dynactin and kinesin subunits, involved in retrograde and anterograde axonal transport, respectively (Hirokawa et al, 2009; Kwinter et al, 2009). DCTN1 and KIF5A variants have been variably described in ALS (Munch et al, 2004, 2005; Liu et al, 2014, 2017; Brenner et al, 2018; Nicolas et al, 2018), CMT, and dHMN (Crimella et al, 2012; Lopez et al, 2015).…”

Section: The Pns As a Converging Point In Alsmentioning

confidence: 99%

The Peripheral Nervous System in Amyotrophic Lateral Sclerosis: Opportunities for Translational Research

et al. 2019

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Although amyotrophic lateral sclerosis (ALS) has been considered as a disorder of the motor neuron (MN) cell body, recent evidences show the non-cell-autonomous pathogenic nature of the disease. Axonal degeneration, loss of peripheral axons and destruction of nerve terminals are early events in the disease pathogenic cascade, anticipating MN degeneration, and the onset of clinical symptoms. Therefore, although ALS and peripheral axonal neuropathies should be differentiated in clinical practice, they also share damage to common molecular pathways, including axonal transport, RNA metabolism and proteostasis. Thus, an extensive evaluation of the molecular events occurring in the peripheral nervous system (PNS) could be fundamental to understand the pathogenic mechanisms of ALS, favoring the discovery of potential disease biomarkers, and new therapeutic targets.

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DCTN1 gene analysis in Chinese patients with sporadic amyotrophic lateral sclerosis

Cited by 21 publications

References 26 publications

The epidemiology and genetics of Amyotrophic lateral sclerosis in China

The epidemiology and genetics of Amyotrophic lateral sclerosis in China

Motor Neuron Susceptibility in ALS/FTD

The Peripheral Nervous System in Amyotrophic Lateral Sclerosis: Opportunities for Translational Research

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