Table 2.
Neurological diseases caused by protein variants involved in mitochondrial dynamics.
| Protein name | Pathogenic mutations or changes | Neurological disorders | References |
|---|---|---|---|
| Mitochondrial fusion | |||
| Mfn2 | p.Trp740Ser, p.Leu76Pro, p.Arg280His, p.Pro251Ala, p.Arg94Gln, p.Val69Phe, p.Arg94Gln, p.Arg707Trp, p.Gly176Ser p.Arg 468His | CMT disease | Züchner et al. (2004), Finsterer et al. (2018), Iapadre et al. (2018), and Ababneh et al. (2022) |
| p.Arg104Trp | Early-onset choreic movement disorder | Pellino et al. (2021) | |
| p.Asp210Tyr | Optic atrophy “plus” phenotype | Renaldo et al. (2012) | |
| OPA1 | p.Val903Glyfs*3, p.Arg290Gln p.Arg857*, p.Asp438Val, p.Arg52* p.Lys212Argfs*4, p.Thr381_Asn404del p.Phe747Leufs*53, p.Arg366* p. Arg247His, p.Gln31*, p.Asp438Gly, p.Arg932Cys | DOA | Amati-Bonneau et al. (2009), Shamseldin et al. (2012), Ścieżyńska et al. (2017), and Mei et al. (2019) |
| p.Arg445His, p.Gly401Asp, p.Leu243*, p.Arg437Glu, p.Ala357Leufs*4 | Optic atrophy and hearing loss | Zhang et al. (2015) | |
| p.Arg445His p.Gly401Asp | ADOA and deafness | Amati-Bonneau et al. (2009) | |
| p.Ser646Leu | ADOA with MS-like features | Amati-Bonneau et al. (2009) | |
| p.Leu730Ser, p.Val903GlyfsX3 p.Ile382Met, p.Cys551Tyr | Behr syndrome | Bonneau et al. (2015), Carelli et al. (2015b), and Zeng et al. (2020) | |
| p.Gly488Arg p.Ala495Val | CPEO, PD, and dementia | Carelli et al. (2015a) | |
| SLC25A46 | p.Thr142Ile, p.Arg347Cys | LS | Janer et al. (2016) and Li et al. (2021b) |
| p.Arg257Gln, p.Gly249Asp p.Arg340Cys, p.Glu335Asp p.Pro333Leu, p.Ser32Thrfs*4 p.Thr142Ile, p.Leu138Arg | Optic atrophy, axonal neuropathy, ataxia, myoclonic jerks | Abrams et al. (2018) | |
| Mitochondrial fission | |||
| Drp1 | p.Ala395Asp | Truncal hypotonia with little spontaneous movement and no tendon reflexes, poor visual fixation | Waterham et al. (2007) |
| p.Ser36Gly p.Trp88Metfs* p.Glu116Lysfs*6 p.Glu129Lys*6 p.Thr115Met p.Leu406Ser | Lethal infantile encephalopathy | Nasca et al. (2016), Yoon et al. (2016), Zaha et al. (2016), and Hogarth et al. (2018) | |
| p.Gly32Ala | Developmental delay, sensory neuropathy, and optic atrophy | Whitley et al. (2018) | |
| p.Asp146Asn | Psychomotor developmental delay, and severe ataxia | Longo et al. (2020) | |
| p.Glu2Ala p.Ala192Glu | DOA | Gerber et al. (2017) | |
| p.R403C | Epileptic encephalopathy | Fahrner et al. (2016) | |
| Mff | p.Arg145 ×, p.Ser7Phe | Encephalopathy | Agarwal et al. (2020) and Panda et al. (2020) |
| p.(Leu62Profs*13; (Arg298*) p.(Glu153Alafs*5);(Glu153Alafs*5) p.(Glu153Alafs*5);(Glu153Alafs*5) p.(Gln64*);(Gln64*) | Seizures, developmental delay and acquired microcephaly, dysphagia, spasticity, and optic and peripheral neuropathy | Shamseldin et al. (2012) and Koch et al. (2016) | |
| SLC25A46 | p.Thr142Ile, p.Arg347Cys | LS | Janer et al. (2016) and Li et al. (2021b) |
| p.Arg257Gln, p.Gly249Asp p.Arg340Cys, p.Glu335Asp p.Pro333Leu, p.Ser32Thrfs*4 p.Thr142Ile, p.Leu138Arg | Optic atrophy, axonal neuropathy, ataxia, myoclonic jerks | Abrams et al. (2018) |