Studies of Mitochondrial Diseases Applications and Limitations

Cybrids for Studies of Mitochondrial Diseases Applications and Limitations 

Although point mutations and large-scale deletions of mtDNA have been established to be closely associated with mitochondrial diseases (C9, LI, L7, Ml5, S4), 

There are several limitations in using primary cell lines from patients with mitochondrial disease (e.g., fibroblasts and myoblasts) (Jl). They are not immortal, and usually grow very slowly in regular culture media. Some of the cell lines do not retain a fully physiological, differentiated phenotype in culture. In addition, they tend to lose mutant mtDNA as a result of mitotic segregation (Jl). Most importantly, one cannot rule out the effect of the nuclear background on the phenotypic expression of mitochondrial dysfunction under examination. 

Cybrid Harboring mtDNA Mutation Mitochondrial Defect Ref. 

A3243G tRNAUu(UUR) Decrease in mitochondrial protein synthesis Cll, K4, K6 

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