Late Breaking Science Abstracts

By D. Selcen, Andrew G. Engel. Neurology, 2004

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The dynamin-related GTPase Drp1 is required for embryonic and brain development in mice (2009, background): “Mitochondrial fusion defects cause human neuropathies, including autosomal dominant optic atrophy and Charcot-Marie-Tooth disease type 2A (Alexander et al., 2000; Delettre et al., 2000; Züchner et al., 2004).”
Mitochondrial fusion is required for mtDNA stability in skeletal muscle and tolerance of mtDNA mutations (2010, background): “In contrast, deletion of mammalian mitofusins or OPA1 results in loss of mtDNA nucleoids from only a subpopulation of mitochondria (Chen et al., 2007).”
Mitochondria: In Sickness and in Health (2012, background): “…and cardiomyopathy (Waterham et al., 2007; Ashrafian et al., 2010) Mutations in MFN2 and OPA1 cause tissue-specific neurodegenerative diseases, Charcot Marie Tooth 2A (CMT2A) and dominant optic atrophy (DOA), respectively (Alexander et al., 2000; Delettre et al., 2000; Züchner et al., 2004).”
Mitochondrial dynamics in mammalian health and disease. (2009, background): “More than 40 mutant forms of MFN2 have been reported in CMT2A patients (57, 89, 165, 179, 307, 332, 335, 336).”
Nitric oxide‐induced mitochondrial fission is regulated by dynamin‐related GTPases in neurons (2006, background): “MFN2 mutations cause Charcot-Marie-Tooth Type 2A (CMT-2A), a peripheral neuro- pathy characterized by motor and sensory neuron loss (Zuchner et al, 2004).”