Proceedings of the National Academy of Sciences · 2018 · 56 citations · 19 references
Life SciencesCell BiologyNeuroscienceCellular NeuroscienceMolecular NeuroscienceNeurodegenerationMitochondrial DynamicsMitochondrial FusionMitochondrial PhysiologyMolecular Basis Of NeurodegenerationNeurodegenerative DiseasesNeurodegenerative DisordersMitochondrial Dynamics DefectsMitochondrial Dynamics In NeuronsMitochondrial Dynamics RegulationMitochondrial Fusion MachineryNeurodegenerative Disease MechanismsNeuronal Development PhysiologyNeuronal Mitochondrial FusionRegulation By Nutrient Starvation
Significance It is known that nutrient starvation stimulates mitochondrial fusion for cell survival. In this study, a homozygous mutation in the NME3 gene, which encodes an NDP kinase, was identified in a fatal neurodegenerative disorder. Cells derived from the patient were deficient of NME3 and intolerant to glucose starvation. Patient cells were used to demonstrate that NME3 rescued cell survival by two separate functions, namely stimulation of mitochondrial fusion and NDP kinase activity. Since mitochondrial dynamics and energy efficiency are important for neuronal development, our data suggest a link between two functions of NME3 and a fatal neuronal disorder.
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