Journal article

Neuronal and astrocyte dysfunction diverges from embryonic fibroblasts in the Ndufs4 fky fky mouse

Matthew J Bird, Xiaonan W Wijeyeratne, Jasper C Komen, Adrienne Laskowski, Michael T Ryan, David R Thorburn, Ann E Frazier



Mitochondrial dysfunction causes a range of early-onset neurological diseases and contributes to neurodegenerative conditions. The mechanisms of neurological damage however are poorly understood, as accessing relevant tissue from patients is difficult, and appropriate models are limited. Hence, we assessed mitochondrial function in neurologically relevant primary cell lines from a CI (complex I) deficient Ndufs4 KO (knockout) mouse (Ndufs4fky/fky) modelling aspects of the mitochondrial disease LS (Leigh syndrome), as well as MEFs (mouse embryonic fibroblasts). Although CI structure and function were compromised in all Ndufs4fky/fky cell types, the mitochondrial membrane potential was selecti..

View full abstract


Awarded by Australian National Health and Medical Research Council (NHMRC)

Awarded by Muscular Dystrophy Association (MDA)

Awarded by NHMRC

Awarded by Australian Postgraduate Award

Funding Acknowledgements

The authors' research was supported by grants from the Australian National Health and Medical Research Council (NHMRC) [grant number APP102222] and the Muscular Dystrophy Association (MDA) [grant number MDA113072], an NHMRC Principal Research Fellowship to David Thorburn [grant number 1022896], an NHMRC Career Development Award to Ann Frazier [grant number 541920], and an Australian Postgraduate Award to Matthew Bird [grant number APA2011]. Additional support was provided by the Australian Mitochondrial Disease Foundation and the Victorian Government's Operational Infrastructure Support Programme.