Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology
We report a fragmented mitochondrial network and swollen and irregularly shaped
mitochondria with partial to complete loss of the cristae in fibroblasts of a patient with a novel
TMEM70 gene deletion, which could be completely restored by complementation of the
TMEM70 genetic defect. Comparative genomics analysis predicted the topology of TMEM70
in the inner mitochondrial membrane, which could be confirmed by immunogold labeling
experiments, and showed that the TMEM70 gene is not restricted to higher multi-cellular …
mitochondria with partial to complete loss of the cristae in fibroblasts of a patient with a novel
TMEM70 gene deletion, which could be completely restored by complementation of the
TMEM70 genetic defect. Comparative genomics analysis predicted the topology of TMEM70
in the inner mitochondrial membrane, which could be confirmed by immunogold labeling
experiments, and showed that the TMEM70 gene is not restricted to higher multi-cellular …