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ABSTRACT:
PROVIDER: PRJNA171316 | ENA |
REPOSITORIES: ENA
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Project description:Amyotrophic lateral sclerosis and primary lateral sclerosis are two syndromic variants within the motor neurone disease spectrum. Whilst primary lateral sclerosis is associated with loss of upper motor neurons and a more benign disease course up to 17yrs, amyotrophic lateral sclerosis is caused by loss of both upper and lower motor neurons and has an average disease course of 2-3 years. The majority of cases are sporadic, thereby limiting the availability of cellular models for investigating pathogenic disease mechanisms. The aim of the present study was to evaluate fibroblasts as a cellular model for sporadic amyotrophic lateral sclerosis and primary lateral sclerosis, to establish whether disease-related dysregulated biological processes recapitulate those seen in the central nervous system and to elucidate pathways that distinguish between the two disease phenotypes. We used microarray analysis to determine the differences in gene expression between fibroblasts derived from skin biopsies taken from sporadic amyotrophic lateral sclerosis and primary lateral sclerosis neurologically normal human controls
2014-04-16 | E-GEOD-56808 | biostudies-arrayexpress
Project description:Importance: Amyotrophic lateral sclerosis demonstrated changes in peripheral immune cells and proteins. However, the relationship between comprehensive immune profiles and clinical progression remained unclear. Objective: To identify the immune cells and proteins related to amyotrophic lateral sclerosis progression rate. Design: This case-control study enrolled healthy volunteers and patients with amyotrophic lateral sclerosis from March 29, 2021, to October 31, 2022. Setting: Tokushima University Hospital and Takeda Pharmaceutical Company Limited in Japan. Participants: This study screened 46 subjects to enroll 30 patients with amyotrophic lateral sclerosis within 2 years from onset and 10 healthy volunteers. Patients with rapid and non-rapid amyotrophic lateral sclerosis were those with Revised Amyotrophic Lateral Sclerosis Functional Rating Scale decreases of ≥1.0/month and <1.0/month, respectively. Exposure(s): Peripheral blood samples were collected. Main Outcome(s) and Measure(s): The progression rate as assessed with the Revised Amyotrophic Lateral Sclerosis Functional Rating Scale decrease/month and the immune cell and protein profiles via single-cell RNA sequencing and immunoproteomics. Results: Samples of 7 (mean [standard deviation] age: 69.8 [14.4] years; male, 3) and 23 (60.7 [10.8] years; male, 17) patients with rapid and non-rapid amyotrophic lateral sclerosis, respectively, and 10 healthy volunteers (63.6 [10.2] years; male, 7) were analyzed. The ratios of T helper 17/regulatory T cells, mature/naïve CD8 T cells, and mature/naïve natural killer cells were significantly higher in rapid than in non-rapid amyotrophic lateral sclerosis. The ratio of T helper 17/regulatory T cells was significantly correlated with the progression rate. The immunoproteomics identified killer cell lectin-like receptor D1, trefoil factor 2, keratin 19, interleukin-17A, YTH N6-methyladenosine RNA binding protein F3, and neutrophil cytosolic factor 2 as significantly elevated in rapid amyotrophic lateral sclerosis. Cell type frequency and protein expression, such as T helper 17 cell–interleukin-17A and mature CD8 T cell–killer cell lectin-like receptor D1, were significantly correlated. Conclusions and Relevance: The progression rate was related to the increase of T helper 17 cells versus regulatory T cells and titers of T helper 17 cell- and CD8 T cell-related immunoproteins in patients with amyotrophic lateral sclerosis. These results provide promising biomarkers and targets for amyotrophic lateral sclerosis disease-modifying therapies.
2025-01-02 | GSE244263 | GEO
Project description:This study was designed to identify gene expression changes in skeletal muscle that could define reliably the degree of the severity of Amyotrophic lateral sclerosis (ALS). All samples were from human biopsies, either from healthy muscles or from muscle whose patients were clearly diagnosed as having Amyotrophic Lateral Sclerosis (ALS)
2012-01-17 | E-MEXP-3260 | biostudies-arrayexpress
Project description:Sporadic Amyotrophic Lateral Sclerosis Study
| PRJNA310034 | ENA
Project description:Amyotrophic lateral sclerosis and primary lateral sclerosis are two syndromic variants within the motor neurone disease spectrum. Whilst primary lateral sclerosis is associated with loss of upper motor neurons and a more benign disease course up to 17yrs, amyotrophic lateral sclerosis is caused by loss of both upper and lower motor neurons and has an average disease course of 2-3 years. The majority of cases are sporadic, thereby limiting the availability of cellular models for investigating pathogenic disease mechanisms. The aim of the present study was to evaluate fibroblasts as a cellular model for sporadic amyotrophic lateral sclerosis and primary lateral sclerosis, to establish whether disease-related dysregulated biological processes recapitulate those seen in the central nervous system and to elucidate pathways that distinguish between the two disease phenotypes.
2014-04-16 | GSE56808 | GEO