Transcriptomics in amyotrophic lateral sclerosis.

Transcriptomics in amyotrophic lateral sclerosis. Front Biosci (Elite Ed). 2018 Jan 01;10:103-121 Authors: Krokidis MG, Vlamos P Abstract Amyotrophic lateral sclerosis (ALS) is an adult-onset, incurable neurodegenerative disease characterized by the selective death of upper and lowers motor neurons in the spinal cord, brainstem and motor cortex, which ultimately leads to paralysis and death within 2-3 years of onset. ALS is poorly understood, although multiple studies have been proposed to explain the pathophysiological mechanisms of the disorder. The development of microarray technology, for simultaneous analysis of the transcriptional expression of thousands of genes, has provided new possibilities to get better insights into the pathogenesis of ALS, and most important, potential new candidate targets for novel treatments. The present review illustrates current evidences from transcriptomic studies in animal models and human samples, related to ALS pathogenesis in parallel to molecular targets associated with the disease progression. Additionally, alteration of RNA metabolism was identified as a major dysregulated pathway in ALS and via this study, new insights into the contribution of altered transcriptional profiles of microRNAs and ALS-associated ribosomal binding proteins have been investigated, in an effort to understand the functional consequences of widespread RNA dysregulation in the disease's pathological mechanism. PMID: 28930607 [PubMed -...
Source: Frontiers in Bioscience - Elite - Category: Biomedical Science Tags: Front Biosci (Elite Ed) Source Type: research

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ConclusionThe study produced and validated a version of the instrument ALSSQOL-SF into Portuguese that is adapted to the Brazilian cultural context.
Source: Quality of Life Research - Category: Health Management Source Type: research
For a variety of sporadic neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease and amyotrophic lateral sclerosis, it is well-established that ethnicity do affect the disease phenotypes. However, how the ethnicity could contribute to the clinical symptoms and disease progressions in monogenetic disorders, such as spinocerebellar ataxia type 3 (SCA3), remains less studied.
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Source Type: research
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Source: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration - Category: Neurology Authors: Source Type: research
AbstractThe strength of respiratory muscles is measured in terms of pressure, being the gradient that moves flow/volume to ventilate the lungs.Sniff test is a technically simple voluntary test that quantifies the strength of inspiratory muscles. Sniff nasal inspiratory pressure (SNIP)1 is a non ā€invasive parameter extensively used in the clinical, being considered more natural and pleasant than maximal inspiratory pressure measurements. It solves the possible leak problems of the use of a mouthpiece, particularly in neuromuscular patients2,3. In amyotrophic lateral sclerosis, for example, SNIP is a predictor of survival and tracheostomy4,5.
Source: The Clinical Respiratory Journal - Category: Respiratory Medicine Authors: Tags: LETTER TO THE EDITOR Source Type: research
Abstract The endocannabinoid system participates in the regulation of CNS homeostasis and functions, including neurotransmission, cell signaling, inflammation and oxidative stress, as well as neuronal and glial cell proliferation, differentiation, migration and survival. Endocannabinoids are produced by multiple cell types within the CNS and their main receptors, CB1 and CB2, are expressed in both neurons and glia. Signaling through these receptors is implicated in the modulation of neuronal and glial alterations in neuroinflammatory, neurodegenerative and psychiatric conditions, including Alzheimer's, Parkinson's...
Source: Current Neuropharmacology - Category: Drugs & Pharmacology Authors: Tags: Curr Neuropharmacol Source Type: research
AbstractIn amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA), spinal and lower brainstem motor neurons degenerate, but some motor neuron subtypes are spared, including oculomotor neurons (OMNs). The mechanisms responsible for this selective degeneration are largely unknown, but the molecular signatures of resistant and vulnerable motor neurons are distinct and offer clues to neuronal resilience and susceptibility. Here, we demonstrate that healthy OMNs preferentially expressSynaptotagmin 13 (SYT13) compared to spinal motor neurons. In end-stage ALS patients,SYT13 is enriched in both OMNs and the remaini...
Source: Acta Neuropathologica - Category: Neurology Source Type: research
Publication date: Available online 13 February 2020Source: NeuronAuthor(s): Juan A. Ortega, Elizabeth L. Daley, Sukhleen Kour, Marisa Samani, Liana Tellez, Haley S. Smith, Elizabeth A. Hall, Y. Taylan Esengul, Yung-Hsu Tsai, Tania F. Gendron, Christopher J. Donnelly, Teepu Siddique, Jeffrey N. Savas, Udai B. Pandey, Evangelos KiskinisSummaryThe most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is a hexanucleotide repeat expansion in C9orf72 (C9-HRE). While RNA and dipeptide repeats produced by C9-HRE disrupt nucleocytoplasmic transport, the proteins that become redistributed...
Source: Neuron - Category: Neuroscience Source Type: research
Opinion statementPurpose of reviewIn this review, we discuss current treatment options for commonly encountered neuromuscular disorders in intensive care units. We will discuss epidemiology, pathophysiology, and acute and chronic treatment options for myasthenia gravis, Guillain-Barr é syndrome, West Nile virus, Botulism, and amyotrophic lateral sclerosis.Recent findingsEculizumab is the newest immunomodulator therapy approved by the Food and Drug Administration in treatment of myasthenia gravis, shown to improve long-term functional outcomes. Edaravone is the newest therapy in management of amyotrophic lateral scle...
Source: Current Treatment Options in Neurology - Category: Neurology Source Type: research
Abstract Aberrant structural formations of Cu/Zn superoxide dismutase enzyme (SOD1) are the probable mechanism by which circumscribed mutations in the SOD1 gene cause familial amyotrophic lateral sclerosis (ALS1). SOD1 forms aberrant structures which can proceed by nucleation to insoluble aggregates. Here, the SOD1 aggregation reaction was investigated predominantly by time-course studies on ALS1 variants G85R, G37R, D101G, and D101N in human embryonic kidney cells (HEK293FT), with analysis by detergent ultracentrifugation extractions and high-resolution PAGE methodologies. Nucleation was found to be pseudo-zeroth...
Source: Molecular and Cellular Biochemistry - Category: Biochemistry Authors: Tags: Mol Cell Biochem Source Type: research
Abstract Axonal protein synthesis has been shown to play a role in developmental and regenerative growth, as well as in the maintenance of the axoplasm in steady state. Recent studies have begun to identify the mRNAs localized in axons, which could be translated locally under different conditions. Despite that now hundreds or thousands of mRNAs have been shown to be localized into the axonal compartment of cultured neurons in vitro, knowledge of which mRNAs are localized in mature myelinated axons is quite limited. With the purpose of characterizing the transcriptome of mature myelinated motor axons of peripheral ...
Source: RNA - Category: Genetics & Stem Cells Authors: Tags: RNA Source Type: research
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