MyJournals Home  

RSS FeedsIJMS, Vol. 24, Pages 9698: Neurological Phenotypes in Mouse Models of Mitochondrial Disease and Relevance to Human Neuropathology (International Journal of Molecular Sciences)

 
 

2 june 2023 16:14:34

 
IJMS, Vol. 24, Pages 9698: Neurological Phenotypes in Mouse Models of Mitochondrial Disease and Relevance to Human Neuropathology (International Journal of Molecular Sciences)
 


Mitochondrial diseases represent the most common inherited neurometabolic disorders, for which no effective therapy currently exists for most patients. The unmet clinical need requires a more comprehensive understanding of the disease mechanisms and the development of reliable and robust in vivo models that accurately recapitulate human disease. This review aims to summarise and discuss various mouse models harbouring transgenic impairments in genes that regulate mitochondrial function, specifically their neurological phenotype and neuropathological features. Ataxia and secondary to cerebellar impairment are one of the most prevalent neurological features of mouse models of mitochondrial dysfunction, consistent with the observation that progressive cerebellar ataxia is a common neurological manifestation in patients with mitochondrial disease. The loss of Purkinje neurons is a shared neuropathological finding in human post-mortem tissues and numerous mouse models. However, none of the existing mouse models recapitulate other devastating neurological phenotypes, such as refractory focal seizures and stroke-like episodes seen in patients. Additionally, we discuss the roles of reactive astrogliosis and microglial reactivity, which may be driving the neuropathology in some of the mouse models of mitochondrial dysfunction, as well as mechanisms through which cellular death may occur, beyond apoptosis, in neurons undergoing mitochondrial bioenergy crisis.


 
73 viewsCategory: Biochemistry, Biophysics, Molecular Biology
 
IJMS, Vol. 24, Pages 9699: Modulation of Insulin Amyloid Fibrillization in Imidazolium-Based Ionic Liquids with Hofmeister Series Anions (International Journal of Molecular Sciences)
IJMS, Vol. 24, Pages 9700: Anisotropic and Coherent Control of Radical Pairs by Optimized RF Fields (International Journal of Molecular Sciences)
 
 
blog comments powered by Disqus


MyJournals.org
The latest issues of all your favorite science journals on one page

Username:
Password:

Register | Retrieve

Search:

Molecular Biology


Copyright © 2008 - 2024 Indigonet Services B.V.. Contact: Tim Hulsen. Read here our privacy notice.
Other websites of Indigonet Services B.V.: Nieuws Vacatures News Tweets Nachrichten