Article
Medicine, General & Internal
Teresa Cunha-Oliveira, Daniela Franco Silva, Luis Segura, Ines Baldeiras, Ricardo Marques, Tatiana Rosenstock, Paulo J. Oliveira, Filomena S. G. Silva
Summary: Distinct redox signatures were found in lymphoblasts from mutSOD1, undSOD1, and healthy controls, which can serve as therapeutic targets for ALS drug development. High heterogeneity in redox profiles between cohorts was observed, but clustering analysis successfully segregated healthy controls from ALS samples based on specific parameters. These findings provide valuable insights for understanding oxidative stress profiles in different forms of ALS and potential treatment strategies.
EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
(2022)
Article
Clinical Neurology
Karin M. Forsberg, Karin S. Graffmo, Erica Stenvall, Naima Tabikh, Stefan L. Marklund, Thomas Brannstrom, Peter M. Andersen
Summary: The D90A mutation in the SOD1 gene is associated with atypical features in amyotrophic lateral sclerosis, including slowly evolving motor symptoms, recessive heredity, and potential involvement of sensory, autonomic, and urinary bladder functions. This study reveals that neuropathological changes in patients with homozygous D90A mutation extend beyond the motor system to include cognitive and sensory cortical areas, but do not affect non-nervous organs.
ACTA NEUROPATHOLOGICA
(2023)
Article
Neurosciences
Teresa Cunha-Oliveira, Marcelo Carvalho, Vilma Sardao, Elisabete Ferreiro, Debora Mena, Francisco B. Pereira, Fernanda Borges, Paulo J. Oliveira, Filomena S. G. Silva
Summary: Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease with mitochondrial alterations in lymphoblasts that may have diagnostic and therapeutic implications.
MOLECULAR NEUROBIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Niccolo Candelise, Illari Salvatori, Silvia Scaricamazza, Valentina Nesci, Henri Zenuni, Alberto Ferri, Cristiana Valle
Summary: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the loss of upper and lower motor neurons. Despite efforts to understand its pathogenesis, ALS remains obscure and lacks effective therapies. Recent studies have highlighted the central role of mitochondrial dysfunction in ALS, leading to impaired energy metabolism.
Review
Biochemistry & Molecular Biology
Pavlina Hemerkova, Martin Valis
Summary: ALS is a neurodegenerative disease that affects motor neurons and currently has no cure. Free oxygen radicals are known to play a role in the pathogenesis of ALS, while antioxidant enzymes like SOD1 are crucial for antioxidant protection.
Article
Clinical Neurology
Arpan R. Mehta, Jenna M. Gregory, Owen Dando, Roderick N. Carter, Karen Burr, Jyoti Nanda, David Story, Karina McDade, Colin Smith, Nicholas M. Morton, Don J. Mahad, Giles E. Hardingham, Siddharthan Chandran, Bhuvaneish T. Selvaraj
Summary: The study found that axonal dysfunction in C9orf72-ALS patients is associated with shorter axons, impaired mitochondrial transport, and altered mitochondrial bioenergetics, indicating that mitochondrial dysfunction is a key factor in axonal dysfunction. Increasing mitochondrial biogenesis through genetic manipulation can correct the bioenergetic deficit and rescue axonal length and transport phenotypes.
ACTA NEUROPATHOLOGICA
(2021)
Article
Biochemistry & Molecular Biology
Venkatesan Santhanam, Priya Modi, Umesh K. Mishra, Ishrat Jahan, Namakkal G. Ramesh, Shashank Deep
Summary: In this study, the first iminosugar that inhibits superoxide dismutase fibrillation associated with ALS is reported. Novel triazole and tetrazole embedded iminosugars were successfully synthesized, and one of these designed iminosugars was found to inhibit SOD1 fibrillation and break pre-formed fibrils. Docking and MD simulation studies indicated that this compound interacts with the key residue Arg69 of SOD1 through hydrogen bonding.
INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES
(2023)
Review
Genetics & Heredity
Emmanuelle C. Genin, Melanie Abou-Ali, Veronique Paquis-Flucklinger
Summary: Mitochondrial dysfunction plays a significant role in amyotrophic lateral sclerosis (ALS) and is closely related to the pathogenesis of the disease. Fighting against mitochondrial dysfunction appears to be a promising avenue for developing combined therapies in the future.
Article
Food Science & Technology
Salvatore D'Antona, Martina Caramenti, Danilo Porro, Isabella Castiglioni, Claudia Cava
Summary: Amyotrophic lateral sclerosis (ALS) is a fatal disease linked to motor neurons degeneration, with diet components like oxidative stress potentially influencing its onset. Some diets with antioxidant and anti-inflammatory properties may reduce the risk of ALS, but current data remains controversial.
Review
Biochemistry & Molecular Biology
Nitesh Sanghai, Geoffrey K. Tranmer
Summary: This review presents evidence of the pivotal role of H2O2 in modulating the toxicity of SOD1 in the pathophysiology of ALS, and highlights the importance of targeting pathological concentrations of H2O2 to halt the misfolding of SOD1.
Article
Biology
Achinta Sannigrahi, Sourav Chowdhury, Bidisha Das, Amrita Banerjee, Animesh Halder, Amaresh Kumar, Mohammed Saleem, Athi N. Naganathan, Sanat Karmakar, Krishnananda Chattopadhyay
Summary: Research shows that the stability and aggregation behavior of SOD1 in membrane environment are affected by Zn, not Cu. Two loop regions play a role in membrane attachment of SOD1 and aggregation driven by lipid-induced conformational changes.
Article
Clinical Neurology
Benjamin G. Trist, Sian Genoud, Stephane Roudeau, Alexander Rookyard, Amr Abdeen, Veronica Cottam, Dominic J. Hare, Melanie White, Jens Altvater, Jennifer A. Fifita, Alison Hogan, Natalie Grima, Ian P. Blair, Kai Kysenius, Peter J. Crouch, Asuncion Carmona, Yann Rufin, Stephane Claverol, Stijn Van Malderen, Gerald Falkenberg, David J. Paterson, Bradley Smith, Claire Troakes, Caroline Vance, Christopher E. Shaw, Safa Al-Sarraj, Stuart Cordwell, Glenda Halliday, Richard Ortega, Kay L. Double
Summary: This study examined the changes in SOD1 protein in post-mortem spinal cord tissues of ALS patients. The results showed mislocalization and accumulation of SOD1 protein in motor neurons of ALS patients, which was associated with instability and mismetallation of enzymatically active SOD1 dimers, as well as alterations to SOD1 post-translational modifications and molecular chaperones governing SOD1 maturation. These changes mostly occurred in regions of neurodegeneration and differentiated ALS patients from controls effectively.
Article
Clinical Neurology
Giammarco Milella, Stefano Zoccolella, Alessia Giugno, Marco Filardi, Daniele Urso, Salvatore Nigro, Benedetta Tafuri, Ludovica Tamburrino, Valentina Gnoni, Giancarlo Logroscino
Summary: This study found that spinal-onset ALS can be categorized into three groups based on the extent of upper motor neuron (UMN) and lower motor neuron (LMN) involvement. UMN burden is associated with higher diagnostic certainty and broader disease spread, while LMN involvement is associated with more severe disease and shorter survival.
JOURNAL OF NEUROLOGY
(2023)
Review
Clinical Neurology
Georgiana Soares Leandro, Mario Emilio Teixeira Dourado Junior, Glauciane Costa Santana, Luan Samy Xavier Dantas
Summary: The main coping strategy used by ALS patients is seeking social support, while Confrontive coping and Distancing are less commonly mentioned. The coping strategies of ALS patients do not seem to focus on emotions or stress-triggering problems, and age and gender do not modify the chosen strategy.
JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Eleonora Colombo, Alberto Doretti, Francesco Scheveger, Alessio Maranzano, Giulia Pata, Delia Gagliardi, Megi Meneri, Stefano Messina, Federico Verde, Claudia Morelli, Stefania Corti, Luca Maderna, Vincenzo Silani, Nicola Ticozzi
Summary: This study aimed to analyze the correlation between electrophysiological parameters and clinical characteristics of ALS. The results showed a significant association between AD and CD scores and disease progression, survival, and functional disability in ALS patients.
JOURNAL OF NEUROLOGY
(2023)
Article
Biochemistry & Molecular Biology
Pei-Yang Gao, Ya-Nan Ou, Yi-Ming Huang, Zhi-Bo Wang, Yan Fu, Ya-Hui Ma, Qiong-Yao Li, Li-Yun Ma, Rui-Ping Cui, Yin-Chu Mi, Lan Tan, Jin-Tai Yu
Summary: Liver function may play a role in the progression of Alzheimer's disease. The study found that as AD progressed, certain liver function markers increased while others decreased. The relationship between liver function and CSF AD biomarkers indicates a potential mediation effect on cognition.
JOURNAL OF NEUROCHEMISTRY
(2024)