From Mouse Models to Human Disease: An Approach for Amyotrophic Lateral Sclerosis

In Vivo
Aziza Rashed Alrafiah

Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal adult-onset neurodegenerative disorder. There are several genetic mutations that lead to ALS development, such as chromosome 9 hexanucleotide repeat 72 (C9ORF72), transactive response DNA-binding protein (TARDBP), superoxide dismutase 1 (SOD1) and fused in sarcoma (FUS). ALS is associated with disrupted gene homeostasis causing aberrant RNA processing or toxic pathology. Several animal models of ALS disease have been developed to understand whether TARDBP-mediated neurodegeneration results from a gain or a loss of function of the protein, however, none exactly mimic the pathophysiology and the phenotype of human ALS. Here, the pathophysiology of specific ALS-linked gene mutations is discussed. Furthermore, some of the generated mouse models, as well as the similarities and differences between these models, are comprehensively reviewed. Further refinement of mouse models will likely aid the development of a better form of model that mimics human ALS. However, disrupted gene homeostasis that causes mutation can result in an ALS-like syndrome, increasing concerns about whether neurodegeneration and other effects in these models are due to the mutation or to gene overexpression. Resear...Continue Reading

Citations

Jun 18, 2019·Journal of Magnetic Resonance Imaging : JMRI·Nao-Xin HuangHua-Jun Chen
May 24, 2019·Journal of Translational Medicine·William R SwindellJohn J Kopchick
Aug 21, 2020·Acta Neuropathologica Communications·Koy Chong Ng Kee KwongSiddharthan Chandran
May 1, 2021·International Journal of Molecular Sciences·Francesco LiguoriCinzia Volonté
May 4, 2021·Journal of Alzheimer's Disease : JAD·Vasily VorobyovAleksey A Ustyugov
Jul 3, 2021·International Journal of Molecular Sciences·Ana Rita VazDora Brites

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