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Two separate functions of NME3 critical for cell survival underlie a neurodegenerative disorder

2018; National Academy of Sciences; Volume: 116; Issue: 2 Linguagem: Inglês

10.1073/pnas.1818629116

1091-6490

Chih‐Wei Chen, Hongling Wang, Ching-Wen Huang, Chang-Yu Huang, Wai Keong Lim, I-Chen Tu, Atmaja Koorapati, Sung‐Tsang Hsieh, Hung‐Wei Kan, Shiou‐Ru Tzeng, Jung‐Chi Liao, Weng Man Chong, Inna Naroditzky, Dvora Kidron, Ayelet Eran, Yousif Nijim, Ella Sela, Hagit Baris Feldman, Limor Kalfon, Hadas Raveh-Barak, Tzipora C. Falik‐Zaccai, Orly Elpeleg, Hanna Mandel, Zee-Fen Chang,

Genetics and Neurodevelopmental Disorders

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.