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Biomedicines
Special Issues
Recent Advances in Amyotrophic Lateral Sclerosis Genetics and Pathophysiology 2.0
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Recent Advances in Amyotrophic Lateral Sclerosis Genetics and Pathophysiology 2.0

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Neurobiology and Clinical Neuroscience".

Deadline for manuscript submissions: closed (31 May 2023) | Viewed by 7681

Special Issue Editor

Dr. Antonio Canosa

E-Mail Website
Guest Editor
1. ALS Centre, "Rita Levi Montalcini" Department of Neuroscience, University of Turin, Turin, Italy
2. Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, Turin, Italy
Interests: neurology; neurodegeneration; amyotrophic lateral sclerosis; brain 18F-FDG-PET

Special Issue Information

Dear Colleagues,

Amyotrophic Lateral Sclerosis (ALS) is a relentlessly progressive degenerative disease of upper and lower motor neurons, usually leading to death within 2–5 years. Approximately 10–20% of patients with ALS show a positive family history. Mendelian gene variations account for about 80% of such cases, while the remaining still have an unknown cause. The same genes found in familial cases can explain up to 14% of apparently sporadic ones. In the last decades the discovery of ALS-related genes has been driven by different approaches, including neuropathology studies, exome and whole genome sequencing, and repeat sequences detection systems. Genome-Wide Association Studies have been employed to identify susceptibility genes and modifiers of phenotype and survival. The knowledge about the genetic architecture of ALS is hugely increasing and its translation to therapeutic approaches seems to be upcoming. Recent advances in ALS genetics, together with studies on cellular and animal models, have pointed out the involvement of several cellular pathways in motor neuron degeneration, including DNA repair, gene expression, RNA metabolism, transport of molecules and vescicles, protein localisation, proteasome activity, lysosomal function, and autophagy. The scope of this special issue is to collect recent advances in ALS genetics and pathophysiology, since the increasing knowledge in this fields might pave the way for more targeted therapeutic approaches.

Dr. Antonio Canosa
Guest Editor

Manuscript Submission Information

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Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • amyotrophic lateral sclerosis
  • genetics
  • pathophysiology
  • disease mechanisms
  • motor neuron degeneration
  • translational research

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Published Papers (3 papers)

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13 pages, 4694 KiB  
Article
Detection of Amyotrophic Lateral Sclerosis (ALS) Comorbidity Trajectories Based on Principal Tree Model Analytics
by Yang-Sheng Wu, David Taniar, Kiki Adhinugraha, Li-Kai Tsai and Tun-Wen Pai
Biomedicines 2023, 11(10), 2629; https://doi.org/10.3390/biomedicines11102629 - 25 Sep 2023
Cited by 1 | Viewed by 2121
Abstract
The multifaceted nature and swift progression of Amyotrophic Lateral Sclerosis (ALS) pose considerable challenges to our understanding of its evolution and interplay with comorbid conditions. This study seeks to elucidate the temporal dynamics of ALS progression and its interaction with associated diseases. We [...] Read more.
The multifaceted nature and swift progression of Amyotrophic Lateral Sclerosis (ALS) pose considerable challenges to our understanding of its evolution and interplay with comorbid conditions. This study seeks to elucidate the temporal dynamics of ALS progression and its interaction with associated diseases. We employed a principal tree-based model to decipher patterns within clinical data derived from a population-based database in Taiwan. The disease progression was portrayed as branched trajectories, each path representing a series of distinct stages. Each stage embodied the cumulative occurrence of co-existing diseases, depicted as nodes on the tree, with edges symbolizing potential transitions between these linked nodes. Our model identified eight distinct ALS patient trajectories, unveiling unique patterns of disease associations at various stages of progression. These patterns may suggest underlying disease mechanisms or risk factors. This research re-conceptualizes ALS progression as a migration through diverse stages, instead of the perspective of a sequence of isolated events. This new approach illuminates patterns of disease association across different progression phases. The insights obtained from this study hold the potential to inform doctors regarding the development of personalized treatment strategies, ultimately enhancing patient prognosis and quality of life. Full article
(This article belongs to the Special Issue Recent Advances in Amyotrophic Lateral Sclerosis Genetics and Pathophysiology 2.0)
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8 pages, 401 KiB  
Communication
The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations
by Antonio Canosa, Andrea Calvo, Gabriele Mora, Cristina Moglia, Maura Brunetti, Marco Barberis, Giuseppe Borghero, Claudia Caponnetto, Francesca Trojsi, Rossella Spataro, Paolo Volanti, Isabella Laura Simone, Fabrizio Salvi, Francesco Ottavio Logullo, Nilo Riva, Lucio Tremolizzo, Fabio Giannini, Jessica Mandrioli, Raffaella Tanel, Maria Rita Murru, Paola Mandich, Francesca Luisa Conforti, Marcella Zollino, Mario Sabatelli, Claudia Tarlarini, Christian Lunetta, Letizia Mazzini, Sandra D’Alfonso, Nathalie Guy, Vincent Meininger, Pierre Clavelou, William Camu, Adriano Chiò and on behalf of ITALSGEN Consortiumadd Show full author list remove Hide full author list
Biomedicines 2023, 11(3), 704; https://doi.org/10.3390/biomedicines11030704 - 24 Feb 2023
Cited by 4 | Viewed by 2789
Abstract
Background: Data from published studies about the effect of HFE polymorphisms on ALS risk, phenotype, and survival are still inconclusive. We aimed at evaluating whether the p.H63D polymorphism is a modifier of phenotype and survival in SOD1-mutated patients. Methods: We [...] Read more.
Background: Data from published studies about the effect of HFE polymorphisms on ALS risk, phenotype, and survival are still inconclusive. We aimed at evaluating whether the p.H63D polymorphism is a modifier of phenotype and survival in SOD1-mutated patients. Methods: We included 183 SOD1-mutated ALS patients. Mutations were classified as severe or mild according to the median survival of the study population. Patients were screened for the HFE p.H63D polymorphism. Survival was calculated using the Kaplan–Meier modeling, and differences were measured by the log-rank test. Multivariable analysis was performed with the Cox proportional hazards model (stepwise backward). Results: SOD1 severe mutation carriers show more frequent familial history for ALS and shorter survival compared to mild mutation carriers. Carriers and non-carriers of the p.H63D polymorphism did not differ in terms of sex ratio, frequency of positive familial history, age at onset, and bulbar/spinal ratio. In univariate and in Cox multivariable analysis using sex, age at onset, site of onset, family history, country of origin, and mutation severity as covariates, p.H63D carriers had a longer survival (p = 0.034 and p = 0.004). Conclusions: We found that SOD1-mutated ALS patients carrying the p.H63D HFE polymorphism have a longer survival compared to non-carriers, independently of sex, age and site of onset, family history, nation of origin, and severity of mutations, suggesting a possible role as disease progression modifier for the p.H63D HFE polymorphism in SOD1-ALS. Full article
(This article belongs to the Special Issue Recent Advances in Amyotrophic Lateral Sclerosis Genetics and Pathophysiology 2.0)
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Other

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10 pages, 2086 KiB  
Brief Report
Aberrantly Expressed Hsa_circ_0060762 and CSE1L as Potential Peripheral Blood Biomarkers for ALS
by Metka Ravnik Glavač, Massimo Mezzavilla, Ana Dolinar, Blaž Koritnik and Damjan Glavač
Biomedicines 2023, 11(5), 1316; https://doi.org/10.3390/biomedicines11051316 - 28 Apr 2023
Cited by 3 | Viewed by 2327
Abstract
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive adult-onset neurodegenerative disease that is often diagnosed with a delay due to initial non-specific symptoms. Therefore, reliable and easy-to-obtain biomarkers are an absolute necessity for earlier and more accurate diagnostics. Circular RNAs (circRNAs) have already [...] Read more.
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive adult-onset neurodegenerative disease that is often diagnosed with a delay due to initial non-specific symptoms. Therefore, reliable and easy-to-obtain biomarkers are an absolute necessity for earlier and more accurate diagnostics. Circular RNAs (circRNAs) have already been proposed as potential biomarkers for several neurodegenerative diseases. In this study, we further investigated the usefulness of circRNAs as potential biomarkers for ALS. We first performed a microarray analysis of circRNAs on peripheral blood mononuclear cells of a subset of ALS patients and controls. Among the differently expressed circRNA by microarray analysis, we selected only the ones with a host gene that harbors the highest level of conservation and genetic constraints. This selection was based on the hypothesis that genes under selective pressure and genetic constraints could have a major role in determining a trait or disease. Then we performed a linear regression between ALS cases and controls using each circRNA as a predictor variable. With a False Discovery Rate (FDR) threshold of 0.1, only six circRNAs passed the filtering and only one of them remained statistically significant after Bonferroni correction: hsa_circ_0060762 and its host gene CSE1L. Finally, we observed a significant difference in expression levels between larger sets of patients and healthy controls for both hsa_circ_0060762 and CSE1L. CSE1L is a member of the importin β family and mediates inhibition of TDP-43 aggregation; the central pathogenicity in ALS and hsa_circ_0060762 has binding sites for several miRNAs that have been already proposed as biomarkers for ALS. In addition, receiver operating characteristics curve analysis showed diagnostic potential for CSE1L and hsa_circ_0060762. Hsa_circ_0060762 and CSE1L thus represent novel potential peripheral blood biomarkers and therapeutic targets for ALS. Full article
(This article belongs to the Special Issue Recent Advances in Amyotrophic Lateral Sclerosis Genetics and Pathophysiology 2.0)
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