scholarly journals Identification of novel FUS and TARDBP gene mutations in Chinese amyotrophic lateral sclerosis patients with HRM analysis

Aging ◽  
2020 ◽  
Author(s):  
Feng Wang ◽  
Shengyu Fu ◽  
Jianfan Lei ◽  
Hongchen Wu ◽  
Shugui Shi ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Gene Mutations ◽  
Hrm Analysis ◽  
Lateral Sclerosis ◽  
I Gene

scholarly journals Glial Cells—The Strategic Targets in Amyotrophic Lateral Sclerosis Treatment

2020 ◽  
Vol 9 (1) ◽  
pp. 261 ◽  
Author(s):  
Tereza Filipi ◽  
Zuzana Hermanova ◽  
Jana Tureckova ◽  
Ondrej Vanatko ◽  
Miroslava Anderova
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Motor Neurons ◽  
Current Knowledge ◽  
Gene Mutations ◽  
Cell Types ◽  
In Vivo Models ◽  
Cell Therapies ◽  
Lateral Sclerosis

Amyotrophic lateral sclerosis (ALS) is a fatal neurological disease, which is characterized by the degeneration of motor neurons in the motor cortex and the spinal cord and subsequently by muscle atrophy. To date, numerous gene mutations have been linked to both sporadic and familial ALS, but the effort of many experimental groups to develop a suitable therapy has not, as of yet, proven successful. The original focus was on the degenerating motor neurons, when researchers tried to understand the pathological mechanisms that cause their slow death. However, it was soon discovered that ALS is a complicated and diverse pathology, where not only neurons, but also other cell types, play a crucial role via the so-called non-cell autonomous effect, which strongly deteriorates neuronal conditions. Subsequently, variable glia-based in vitro and in vivo models of ALS were established and used for brand-new experimental and clinical approaches. Such a shift towards glia soon bore its fruit in the form of several clinical studies, which more or less successfully tried to ward the unfavourable prognosis of ALS progression off. In this review, we aimed to summarize current knowledge regarding the involvement of each glial cell type in the progression of ALS, currently available treatments, and to provide an overview of diverse clinical trials covering pharmacological approaches, gene, and cell therapies.

SOD1 gene mutations in patients with amyotrophic lateral sclerosis: Potential of method of molecular modeling

2013 ◽  
Vol 47 (5) ◽  
pp. 751-757 ◽  
Author(s):  
E. V. Lysogorskaia ◽  
A. V. Rossokhin ◽  
N. Yu. Abramycheva ◽  
M. N. Zakharova ◽  
S. N. Illarioshkin
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Molecular Modeling ◽  
Gene Mutations ◽  
Sod1 Gene ◽  
Lateral Sclerosis

scholarly journals Paraoxonase gene mutations in amyotrophic lateral sclerosis

2010 ◽  
Vol 68 (1) ◽  
pp. 102-107 ◽  
Author(s):  
Nicola Ticozzi ◽  
Ashley Lyn LeClerc ◽  
Pamela J. Keagle ◽  
Jonathan D. Glass ◽  
Anne-Marie Wills ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Gene Mutations ◽  
Lateral Sclerosis

SOD1 gene mutations in Italian patients with Sporadic Amyotrophic Lateral Sclerosis (ALS)

2006 ◽  
Vol 16 (11) ◽  
pp. 800-804 ◽  
Author(s):  
L. Corrado ◽  
S. D’Alfonso ◽  
L. Bergamaschi ◽  
L. Testa ◽  
M. Leone ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Gene Mutations ◽  
Sporadic Amyotrophic Lateral Sclerosis ◽  
Sod1 Gene ◽  
Lateral Sclerosis

scholarly journals High-Resolution Melting (HRM) Analysis of the Cu/Zn Superoxide Dismutase (SOD1) Gene in Japanese Sporadic Amyotrophic Lateral Sclerosis (SALS) Patients

2011 ◽  
Vol 2011 ◽  
pp. 1-8 ◽  
Author(s):  
Chizuru Akimoto ◽  
Mitsuya Morita ◽  
Naoki Atsuta ◽  
Gen Sobue ◽  
Imaharu Nakano
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
High Resolution ◽  
Genetic Background ◽  
High Resolution Melting ◽  
Neurodegenerative Disorder ◽  
Screening Method ◽  
Screening Methods ◽  
Sod1 Gene ◽  
Hrm Analysis ◽  
Lateral Sclerosis

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder, and the majority of ALS are sporadic (SALS). Recently, several causative genes for familial ALS (FALS) were identified, but the cause of the SALS is still unknown. This time, we aimed to identify the genetic background of SALS. First, we applied the new sensitive screening methods: high-resolution melting (HRM) analysis. HRM analysis detected 18 out of 19 known SOD1 gene mutations ( sensitivity). Next, we screenedSOD1, three novel mutations (C6Y, Q22H, and S134T) were identified in our own 184 SALS cases ( prevalence), and four mutations in another 255 SALS cases ( prevalence) registered from all over Japan. The patients withSOD1mutations suggested a relatively young onset and limb involvement at onset. The HRM analysis is a sensitive and easy screening method; we will use this method for screening other ALS causative genes and revealing the genetic background of SALS.

scholarly journals A Frameshift Deletion in Peripherin Gene Associated with Amyotrophic Lateral Sclerosis

2004 ◽  
Vol 279 (44) ◽  
pp. 45951-45956 ◽  
Author(s):  
François Gros-Louis ◽  
Roxanne Larivière ◽  
Geneviève Gowing ◽  
Sandra Laurent ◽  
William Camu ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Motor Neurons ◽  
Gene Mutations ◽  
Frameshift Deletion ◽  
Nucleotide Insertion ◽  
Exon 1 ◽  
Sporadic Cases ◽  
Polymorphic Variants ◽  
Als Patients ◽  
Lateral Sclerosis

Peripherin is a neuronal intermediate filament associated with inclusion bodies in motor neurons of patients with amyotrophic lateral sclerosis (ALS). A possible peripherin involvement in ALS pathogenesis has been suggested based on studies with transgenic mouse overexpressors and with a toxic splicing variant of the mouse peripherin gene. However, the existence of peripherin gene mutations in human ALS has not yet been documented. Therefore, we screened for sequence variants of the peripherin gene (PRPH) in a cohort of ALS patients including familial and sporadic cases. We identified 18 polymorphic variants ofPRPHdetected in both ALS and age-matched control populations. Two additionalPRPHvariants were discovered in ALS cases but not in 380 control individuals. One variant consisted of a nucleotide insertion in intron 8 (PRPHIVS8–36insA), whereas the other one consisted of a 1-bp deletion within exon 1 (PRPH228delC), predicting a truncated peripherin species of 85 amino acids. Remarkably, expression of this frameshift peripherin mutant in SW13 cells resulted in disruption of neurofilament network assembly. These results suggest thatPRPHmutations may be responsible for a small percentage of ALS, cases and they provide further support of the view that neurofilament disorganization may contribute to pathogenesis.

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