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. 2020 Mar 25;7(1):43–65. doi: 10.3934/Neuroscience.2020004

Table 1. Proteins reported to be involved in neurodegenerative diseases.

Phenotype/Disease Gene product/Role in mitochondrial function Induced dysfunction References
PD Pink1/Mitochondrial morhogenesis, mitophagy, mitochondrial fission-fusion, mitochondria transport in axon Neurons degeneration accompanied with mitochondria- related structural alterations [73][75]
PD Parkin/Mitochondrial biogenesis, UPS, mitophagy, antioxidant defense Impaired mitochondrial function and morphology, oxidative damage [73],[76],[77]
PD Alpha-synuclein/Mitophagy, ROS formation, mitochondrial fusion Mitochondrial fragmentation, impaired respiratory complex [78],[79]
PD LRRK2/Regulating mitochondrial homeostasis Reduced mitochondrial membrane potential and total intracellular ATP levels, mitochondrial elongation and interconnectivity [80],[81]
CMT2A Mfn2/fusion, transportation of mitochondria, axonal transport Accumulations in mitochondrial network, Aberration in Δψm, Disorders in mitochondrial fusion [38],[71],[82],[83]
CMT4A GDAP1/fission, regulation of mitochondria network Elongated mitochondria, Oxidative stress, Neuronal demyelization [36],[84],[85]
Abnormal brain development, Optic atrophy Drp1/fission Elongated mitochondria, fission disruption [29],[30],[39],[86]
Dominant Optical Atrophy OPA1/fusion Fragmented mitochondria, Aberrations in ATP production, Δψm and oxygen consumption, Instability of mtDNA, Sensitivity to apoptosis [24],[27],[28],[64],[66],[87]