Amyotrophic Lateral Sclerosis - Cell Based Therapy and Novel Therapeutic Development

Kim, Changsung; Lee, Hee Chul; Sung, Jung Joon

doi:10.5607/en.2014.23.3.207

Cited by 19 publications

(23 citation statements)

References 49 publications

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“…Amyotrophic lateral sclerosis (ALS), the most common adult onset motor neuron disease, is pathologically characterized by progressive loss of the upper and lower motor neurons in the brainstem motor nuclei and the anterior horn of the spinal cord [12]. This pattern of neurodegeneration produces progressive weakness, muscular wasting, and spasticity.…”

Section: Introductionmentioning

confidence: 99%

Rapid Progression of Sporadic ALS in a Patient Carrying SOD1 p.Gly13Arg Mutation

et al. 2016

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Amyotrophic lateral sclerosis (ALS), the most common adult onset motor neuron disease, is pathologically characterized by progressive loss of the upper and lower motor neurons. Mutations in the Cu/Zn superoxide dismutase gene (SOD1) account for about 20% of familial ALS cases and a small percentage of sporadic ALS (SALS) cases, and have revealed a validated genotype-phenotype correlation. Herein, we report a p.Gly13Arg mutation in SOD1 exon 1 in a patient with SALS who presented with a rapidly progressive course, predominantly affecting the lower motor neurons. A 48-year-old man presented with progressive weakness and muscle atrophy of the left upper and lower limbs, followed by muscle fasciculation and cramping. The clinical features of the patient were clearly suggestive of ALS, and implied a sporadic form with rapid progression, predominantly affecting the lower motor neurons. Sequencing of the SOD1 gene by PCR revealed a missense mutation of G to C (c.37G>C) in exon 1, and amino acid substitution of glycine by arginine (p.Gly13Arg). This is the first case identifying the p.Gly13Arg mutation of SOD1 in the Korean population, and clinical assessments of this patient revealed a different phenotype compared with other cases.

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Section: Introductionmentioning

confidence: 99%

Rapid Progression of Sporadic ALS in a Patient Carrying SOD1 p.Gly13Arg Mutation

et al. 2016

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“…Over expression of σ1R for this missense mutation (p.E102Q) in NSC34 cells illustrated boosted ER stress leading to increased cell apoptosis [23]. Most recently, a 3′-UTR variant of SIGMAR1 (c.*58 T>C) was reported in sALS of Korean population and was considered as a rare variant [19].…”

Section: Discussionmentioning

confidence: 99%

“…Previously, C9ORF72 repeat expansions were reported in FTLD and fALS [17,18]. Most recently, a 3′-UTR variant of SIGMAR1 was reported in sporadic ALS of Korean population [19].…”

Section: Introductionmentioning

confidence: 99%

In silico analysis of SIGMAR1 variant (rs4879809) segregating in a consanguineous Pakistani family showing amyotrophic lateral sclerosis without frontotemporal lobar dementia

et al. 2015

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Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. It has been found to be associated with frontotemporal lobar degeneration (FTLD). In the present study, we have described homozygosity mapping and gene sequencing in a consanguineous autosomal recessive Pakistani family showing non-juvenile ALS without signs of FTLD. Gene mapping was carried out in all recruited family members using microsatellite markers, and linkage was established with sigma non-opioid intracellular receptor 1 (SIGMAR1) gene at chromosome 9p13.2. Gene sequencing of SIGMAR1 revealed a novel 3'-UTR nucleotide variation c.672*31A>G (rs4879809) segregating with disease in this family. The C9ORF72 repeat region in intron 1, previously implicated in a related phenotype, was excluded through linkage, and further confirmation of exclusion was obtained by amplifying intron 1 of C9ORF72 with multiple primers in affected individuals and controls. In silico analysis was carried out to explore the possible role of 3'-UTR variant of SIGMAR1 in ALS. The Regulatory RNA motif and Element Finder program revealed disturbance in miRNA (hsa-miR-1205) binding site due to this variation. ESEFinder analysis showed new SRSF1 and SRSF1-IgM-BRCA1 binding sites with significant scores due to this variation. Our results indicate that the 3'-UTR SIGMAR1 variant c.672*31A>G may have a role in the pathogenesis of ALS in this family.

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“…A clinical study projected to analyze if transplantation of fetal olfactory ensheathing cells will influence the evolution of disease in patients with ALS, showed that transplantation of olfactory cells are capable to slow, based on clinical findings, the rate of progression within the first four months after transplantation 43 . The authors of another study found that seriate treatment involving multiple injection is safe and feasible, despite the fragility of spine in ALS with observation of functional improvement after treatment 44,45 . There are different experimental models using OECs for Parkinson's disease.…”

Section: Neurodegenerative Diseasesmentioning

confidence: 99%

The role of olfactory ensheating cells in regenerative medicine: review of the literature

Grosu-Bularda

Manea

Lascăr

2015

Romanian Journal of Rhinology

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Olfactory ensheathing cells (OECs) join olfactory axons in their entrance to the central nervous system, representing a unique population of glial cells with functions in olfactory neurogenesis, axonal growth and olfactory bulb formation. Olfactory ensheathing cells have a great potential to induce repair for neural injuries, in central nervous system and peripheral nervous system, existing numerous experimental and clinical studies lately, reporting beneficial effects in anatomical and functional recovery. Studies are also conducted in order to establish possible pro-regenerative effects of the OECs, their potential in tissue repair and ability to modulate the immune system. The aim of this paper was to review the properties of olfactory ensheathing cells and their potential therapeutic role in regenerative medicine.

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Amyotrophic Lateral Sclerosis - Cell Based Therapy and Novel Therapeutic Development

Cited by 19 publications

References 49 publications

Rapid Progression of Sporadic ALS in a Patient Carrying SOD1 p.Gly13Arg Mutation

Rapid Progression of Sporadic ALS in a Patient Carrying SOD1 p.Gly13Arg Mutation

In silico analysis of SIGMAR1 variant (rs4879809) segregating in a consanguineous Pakistani family showing amyotrophic lateral sclerosis without frontotemporal lobar dementia

The role of olfactory ensheating cells in regenerative medicine: review of the literature

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