Co-occurrence of amyotrophic lateral sclerosis and Leber’s hereditary optic neuropathy: is mitochondrial dysfunction a modifier?

Smith EF, Shaw PJ, De Vos KJ (2019) The role of mitochondria in amyotrophic lateral sclerosis. Neurosci Lett 25(710):132933. https://doi.org/10.1016/j.neulet.2017.06.052

CAS  Article  Google Scholar 

Carelli V, Chan DC (2014) Mitochondrial DNA: impacting central and peripheral nervous systems. Neuron 84(6):1126–1142

CAS  Article  Google Scholar 

Caporali L, Iommarini L, La Morgia C, Olivieri A, Achilli A, Maresca A, Valentino ML, Capristo M, Tagliavini F, Del Dotto V, Zanna C, Liguori R, Barboni P, Carbonelli M, Cocetta V, Montopoli M, Martinuzzi A, Cenacchi G, De Michele G, Testa F, Nesti A, Simonelli F, Porcelli AM, Torroni A, Carelli V (2018) Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber’s hereditary optic neuropathy. PLoS Genet 14(2):e1007210. https://doi.org/10.1371/journal.pgen.1007210

CAS  Article  PubMed  PubMed Central  Google Scholar 

de Carvalho M, Dengler R, Eisen A et al (2008) Electrodiagnostic criteria for diagnosis of ALS. Clin Neurophysiol 119(3):497–50318164242

Article  Google Scholar 

Bartoletti-Stella A, Vacchiano V, De Pasqua S, Mengozzi G, De Biase D, Bartolomei I, Avoni P, Rizzo G, Parchi P, Donadio V, Chiò A, Pession A, Oppi F, Salvi F, Liguori R, Capellari S, BoReALS (2021) Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum. J Neurol. https://doi.org/10.1007/s00415-021-10521-w

Article  PubMed  PubMed Central  Google Scholar 

Nesbitt V, Morrison PJ, Crushell E, Donnelly DE, Alston CL, He L, McFarland R, Taylor RW (2012) The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome. Dev Med Child Neurol 54(6):500–506. https://doi.org/10.1111/j.1469-8749.2012.04224.x

Article  PubMed  Google Scholar 

Bonifati V, Rohé CF, Breedveld GJ, Fabrizio E, De Mari M, Tassorelli C, Tavella A, Marconi R, Nicholl DJ, Chien HF, Fincati E, Abbruzzese G, Marini P, De Gaetano A, Horstink MW, Maat-Kievit JA, Sampaio C, Antonini A, Stocchi F, Montagna P, Toni V, Guidi M, Dalla Libera A, Tinazzi M, De Pandis F, Fabbrini G, Goldwurm S, de Klein A, Barbosa E, Lopiano L, Martignoni E, Lamberti P, Vanacore N, Meco G, Oostra BA, Italian Parkinson Genetics Network (2005) Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. Neurology 65(1):87–95. https://doi.org/10.1212/01.wnl.0000167546.39375.82

CAS  Article  PubMed  Google Scholar 

Debska-Vielhaber G, Miller I, Peeva V, Zuschratter W, Walczak J, Schreiber S, Petri S, Machts J, Vogt S, Szczepanowska J, Gellerich FN, Hermann A, Vielhaber S, Kunz WS (2021) Impairment of mitochondrial oxidative phosphorylation in skin fibroblasts of SALS and FALS patients is rescued by in vitro treatment with ROS scavengers. Exp Neurol 23(339):113620. https://doi.org/10.1016/j.expneurol.2021.113620

CAS  Article  Google Scholar 

Kodavati M, Wang H, Hegde ML (2020) Altered mitochondrial dynamics in motor neuron disease: an emerging perspective. Cells 9(4):1065. https://doi.org/10.3390/cells9041065

CAS  Article  PubMed Central  Google Scholar 

Hirano M, Angelini C, Montagna P, Hays AP, Tanji K, Mitsumoto H, Gordon PH, Naini AB, DiMauro S, Rowland LP (2008) Amyotrophic lateral sclerosis with ragged-red fibers. Arch Neurol 65(3):403–406

Article  Google Scholar 

Giordano C, Iommarini L, Giordano L, Maresca A, Pisano A, Valentino ML, Caporali L, Liguori R, Deceglie S, Roberti M, Fanelli F, Fracasso F, Ross-Cisneros FN, D’Adamo P, Hudson G, Pyle A, Yu-Wai-Man P, Chinnery PF, Zeviani M, Salomao SR, Berezovsky A, Belfort R Jr, Ventura DF, Moraes M, Moraes Filho M, Barboni P, Sadun F, De Negri A, Sadun AA, Tancredi A, Mancini M, d’Amati G, LoguercioPolosa P, Cantatore P, Carelli V (2014) Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy. Brain 137(Pt 2):335–353. https://doi.org/10.1093/brain/awt343

Article  PubMed  Google Scholar 

Comi GP, Bordoni A, Salani S, Franceschina L, Sciacco M, Prelle A, Fortunato F, Zeviani M, Napoli L, Bresolin N, Moggio M, Ausenda CD, Taanman JW, Scarlato G (1998) Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease. Ann Neurol 43(1):110–116

CAS  Article  Google Scholar 

Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore DG, Verschueren A, Rouzier C, BerI Le, Augé G, Cochaud C, Lespinasse F, N’Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V (2014) A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement. Brain 137(Pt 8):2329–2345

Article  Google Scholar 

Zhang Y, Schmid B, Nikolaisen NK, Rasmussen MA, Aldana BI, Agger M, Calloe K, Stummann TC, Larsen HM, Nielsen TT, Huang J, Xu F, Liu X, Bolund L, Meyer M, Bak LK, Waagepetersen HS, Luo Y, Nielsen JE, FReJA Consortium, Holst B, Clausen C, Hyttel P, Freude KK (2017) Patient iPSC-derived neurons for disease modeling of frontotemporal dementia with mutation in CHMP2B. Stem Cell Reports 8(3):648–658. https://doi.org/10.1016/j.stemcr.2017.01.012

CAS  Article  PubMed  PubMed Central  Google Scholar 

Knippenberg S, Sipos J, Thau-Habermann N, Körner S, Rath KJ, Dengler R, Petri S (2013) Altered expression of DJ-1 and PINK1 in sporadic ALS and in the SOD1(G93A) ALS mouse model. J Neuropathol Exp Neurol 72(11):1052–1061. https://doi.org/10.1097/NEN.0000000000000004

CAS  Article  PubMed  Google Scholar 

van Rheenen W, van der Spek RAA, Bakker MK et al (2021) Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nat Genet 53(12):1636–1648. https://doi.org/10.1038/s41588-021-00973-1

CAS  Article  PubMed  PubMed Central  Google Scholar 

Pfeffer G, Burke A, Yu-Wai-Man P, Compston DA, Chinnery PF (2013) Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations. Neurology 81(24):2073–2081

CAS  Article  Google Scholar 

Danese A, Patergnani S, Maresca A, Peron C, Raimondi A, Caporali L, Marchi S, La Morgia C, Del Dotto V, Zanna C, Iannielli A, Segnali A, Di Meo I, Cavaliere A, Lebiedzinska-Arciszewska M, Wieckowski MR, Martinuzzi A, Moraes-Filho MN, Salomao SR, Berezovsky A, Belfort R Jr, Buser C, Ross-Cisneros FN, Sadun AA, Tacchetti C, Broccoli V, Giorgi C, Tiranti V, Carelli V, Pinton P (2022) Pathological mitophagy disrupts mitochondrial homeostasis in Leber’s hereditary optic neuropathy. Cell Rep 40(3):111124. https://doi.org/10.1016/j.celrep.2022.111124

CAS  Article  PubMed  PubMed Central  Google Scholar 

Di Stadio A, Angelini C (2019) Microglia polarization by mitochondrial metabolism modulation: a therapeutic opportunity in neurodegenerative diseases. Mitochondrion 46:334–336. https://doi.org/10.1016/j.mito.2018.09.003 (Epub 2018 Sep 19)

CAS  Article  PubMed  Google Scholar 

Marchi S, Guilbaud E, Tait SWG, Yamazaki T, Galluzzi L (2022) Mitochondrial control of inflammation. Nat Rev Immunol. https://doi.org/10.1038/s41577-022-00760-x (Epub ahead of print)

Article  PubMed  PubMed Central  Google Scholar 

Vasta R, Moglia C, Manera U, Canosa A, Grassano M, Palumbo F, Cugnasco P, De Marchi F, Mazzini L, Calvo A, Chiò A (2021) What is amyotrophic lateral sclerosis prevalence? Amyotroph Lateral Scler Frontotemporal Degener 21:1–6. https://doi.org/10.1080/21678421.2021.1936557

CAS  Article  Google Scholar 

Amore G, Romagnoli M, Carbonelli M, Barboni P, Carelli V, La Morgia C (2021) Therapeutic options in hereditary optic neuropathies. Drugs 81(1):57–86. https://doi.org/10.1007/s40265-020-01428-3

CAS  Article  PubMed  Google Scholar 

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