Current Concepts on Genetic Aspects of Mitochondrial Dysfunction in Amyotrophic Lateral Sclerosis
| Autor: | Phepy Gamil Anwar Dawod, Milena Jankovic, Ivana Novakovic, Dejan Nikolic, Ayman Gamil Anwar Dawod, Fayda Ibrahim Abdel Motaleb, Aleksandra Drinic, Sinisa Ducic |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
amyotrophic lateral sclerosis
QH301-705.5 Excitotoxicity Respiratory chain Cellular homeostasis Review Mitochondrion medicine.disease_cause Axonal Transport Catalysis Oxidative Phosphorylation Inorganic Chemistry Electron Transport 03 medical and health sciences 0302 clinical medicine Superoxide Dismutase-1 Mitophagy medicine Animals Humans Biology (General) Physical and Theoretical Chemistry Amyotrophic lateral sclerosis genes QD1-999 Molecular Biology Spectroscopy 030304 developmental biology 0303 health sciences therapy business.industry Organic Chemistry Neurodegeneration Glutamate receptor biomarkers General Medicine medicine.disease 3. Good health Computer Science Applications Mitochondria Chemistry Calcium business Neuroscience 030217 neurology & neurosurgery |
| Zdroj: | International Journal of Molecular Sciences International Journal of Molecular Sciences, Vol 22, Iss 9832, p 9832 (2021) |
| ISSN: | 1422-0067 |
| Popis: | Amyotrophic Lateral Sclerosis (ALS), neurodegenerative motor neuron disorder is characterized as multisystem disease with important contribution of genetic factors. The etiopahogenesis of ALS is not fully elucidate, but the dominant theory at present relates to RNA processing, as well as protein aggregation and miss-folding, oxidative stress, glutamate excitotoxicity, inflammation and epigenetic dysregulation. Additionally, as mitochondria plays a leading role in cellular homeostasis maintenance, a rising amount of evidence indicates mitochondrial dysfunction as a substantial contributor to disease onset and progression. The aim of this review is to summarize most relevant findings that link genetic factors in ALS pathogenesis with different mechanisms with mitochondrial involvement (respiratory chain, OXPHOS control, calcium buffering, axonal transport, inflammation, mitophagy, etc.). We highlight the importance of a widening perspective for better understanding overlapping pathophysiological pathways in ALS and neurodegeneration in general. Finally, current and potentially novel therapies, especially gene specific therapies, targeting mitochondrial dysfunction are discussed briefly. |
| Databáze: | OpenAIRE |
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