Related Experiment Video
Updated: Mar 17, 2026

08:59
Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis
Published on: July 16, 2021
3.2K
Pathogenesis of amyotrophic lateral sclerosis
Sarah Morgan1, Richard W Orrell2
1Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.
British Medical Bulletin
|July 25, 2016
Summary
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease affecting motor neurons. Research is advancing in genetics, but effective therapies for ALS pathogenesis remain elusive, focusing on supportive care.
Area of Science:
- Neuroscience
- Genetics
- Neurology
Background:
- Amyotrophic lateral sclerosis (ALS), or motor neuron disease, is a rapidly progressive neurodegenerative disorder impacting motor neurons in the brain and spinal cord.
- It leads to secondary muscle weakness and can involve cognitive changes in other brain regions.
Purpose of the Study:
- To review the current understanding of ALS pathogenesis, areas of agreement and controversy, and emerging research directions.
- To highlight the significance of genetic factors and the challenges in developing targeted therapies.
Main Methods:
- Review of peer-reviewed journal articles and scientific literature.
- Analysis of data from PubMed.gov and large-scale genetic epidemiological studies.
Main Results:
- While genetic factors are increasingly recognized, the precise mechanisms of ALS pathogenesis remain largely unknown.
- Controversy exists regarding the translation of cellular and animal models to human ALS.
- Current therapeutic advances primarily focus on supportive and multidisciplinary care.
Conclusions:
- The identification of C9orf72 repeats offers a genetic framework for studying ALS risk factors and developing therapies.
- Despite progress in understanding genetic links, effective treatments targeting ALS pathogenesis are still needed.
Related Concept Videos
Cross-bridge Cycle
124.4K
As muscle contracts, the overlap between the thin and thick filaments increases, decreasing the length of the sarcomere—the contractile unit of the muscle—using energy in the form of ATP. At the molecular level, this is a cyclic, multistep process that involves binding and hydrolysis of ATP, and movement of actin by myosin.
124.4K
Parkinson's Disease: Overview
2.3K
Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is...
2.3K
Amyloid Fibrils
12.8K
Amyloid fibrils are aggregates of misfolded proteins. Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils.
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining,...
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining,...
12.8K
Amyloid Fibrils
6.9K
6.9K
Lysosomal Hydrolases
4.7K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
4.7K
Satellite Stem Cells and Muscular Dystrophy
2.5K
Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
2.5K

