Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome

Tebbenkamp ATN, Varela L, Choi J, Paredes MI, Giani AM, Song JE, Sestan-Pesa M, Franjic D, Sousa AMM, Liu ZW, Li M, Bichsel C, Koch M, Szigeti-Buck K, Liu F, Li Z, Kawasawa YI, Paspalas CD, Mineur YS, Prontera P, Merla G, Picciotto MR, Arnsten AFT, Horvath TL, Sestan N (2018) The 7q11.23 protein DNAJC30 interacts with ATP synthase and links mitochondria to brain development. Cell 175:1088-1104.e23. https://doi.org/10.1016/j.cell.2018.09.014

Article  CAS  PubMed  PubMed Central  Google Scholar 

Stenton SL, Sheremet NL, Catarino CB, Andreeva NA, Assouline Z, Barboni P, Barel O, Berutti R, Bychkov I, Caporali L, Capristo M, Carbonelli M, Cascavilla ML, Charbel Issa P, Freisinger P, Gerber S, Ghezzi D, Graf E, Heidler J, Hempel M, Heon E, Itkis YS, Javasky E, Kaplan J, Kopajtich R, Kornblum C, Kovacs-Nagy R, Krylova TD, Kunz WS, La Morgia C, Lamperti C, Ludwig C, Malacarne PF, Maresca A, Mayr JA, Meisterknecht J, Nevinitsyna TA, Palombo F, Pode-Shakked B, Shmelkova MS, Strom TM, Tagliavini F, Tzadok M, van der Ven AT, Vignal-Clermont C, Wagner M, Zakharova EY, Zhorzholadze NV, Rozet JM, Carelli V, Tsygankova PG, Klopstock T, Wittig I, Prokisch H (2021) Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy. J Clin Invest 131:e138267. https://doi.org/10.1172/JCI138267

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zawadzka M, Krygier M, Pawłowicz M, Wilke MVMB, Rutkowska K, Gueguen N, Desquiret-Dumas V, Klee EW, Schimmenti LA, Sławek J, Procaccio V, Płoski R, Mazurkiewicz-Bełdzińska M (2022) Expanding the phenotype of DNAJC30-associated Leigh syndrome. Clin Genet 102(5):438–443. https://doi.org/10.1111/cge.14196. (Epub 2022 Jul 29. PMID: 35861300)

Article  CAS  PubMed  Google Scholar 

Wiggs JL (2021) DNAJC30 biallelic mutations extend mitochondrial complex I-deficient phenotypes to include recessive Leber’s hereditary optic neuropathy. J Clin Invest 131(6):e147734. https://doi.org/10.1172/JCI147734

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kieninger S, Xiao T, Weisschuh N, Kohl S, Rüther K, Kroisel PM, Brockmann T, Knappe S, Kellner U, Lagrèze W, Mazzola P, Haack TB, Wissinger B, Tonagel F (2022) DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber’s hereditary optic neuropathy and optic atrophy. J Med Genet 59:1027–1034. https://doi.org/10.1136/jmedgenet-2021-108235

Article  CAS  PubMed  Google Scholar 

Schubert Baldo M, Vilarinho L (2020) Molecular basis of Leigh syndrome: a current look. Orphanet J Rare Dis 15(1):31. https://doi.org/10.1186/s13023-020-1297-9

Article  PubMed  PubMed Central  Google Scholar 

Tolomeo D, Orsucci D, Nesti C, Baldacci J, Battini R, Bruno C, Bruno G, Cassandrini D, Doccini S, Donati MA, Ferrari A, Fiori S, Fiorillo C, Guerrini R, Mari F, Montomoli M, Pochiero F, Procopio E, Ruggiero L, Sampaolo S, Sicca F, Ticci C, Rubegni A, Santorelli FM (2021) The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study. J Clin Med 10:3222. https://doi.org/10.3390/jcm10153222

Article  CAS  PubMed  PubMed Central  Google Scholar 

van den Bosch BJ, Gerards M, Sluiter W, Stegmann AP, Jongen EL, Hellebrekers DM, Oegema R, Lambrichs EH, Prokisch H, Danhauser K, Schoonderwoerd K, de Coo IF, Smeets HJ (2021) Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. J Med Genet 49:10–15. https://doi.org/10.1136/jmedgenet-2011-100466

Article  Google Scholar 

Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R (2021) ATP1A2/A3-collaborators. ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. Brain 144:1435–1450. https://doi.org/10.1093/brain/awab052

Article  PubMed  Google Scholar 

Sgarbi G, Matarrese P, Pinti M, Lanzarini C, Ascione B, Gibellini L, Dika E, Patrizi A, Tommasino C, Capri M, Cossarizza A, Baracca A, Lenaz G, Solaini G, Franceschi C, Malorni W, Salvioli S (2014) Mitochondria hyperfusion and elevated autophagic activity are key mechanisms for cellular bioenergetic preservation in centenarians. Aging (Albany NY) 6:296–310. https://doi.org/10.18632/aging.100654

Article  PubMed  Google Scholar 

Stenton SL, Tesarova M, Sheremet NL, Catarino C, Carelli V, Ciara E, Curry K, Engvall M, Fleming LR, Freisinger P, Iwanicka-Pronicka K, Jurkiewicz E, Klopstock T, Koenig MK, Kolářová H, Kousal B, Krylova T, La Morgia C, Nosková L, Piekutowska-Abramczuk D, Russo SN, Stránecký V, Tóthová I, Träisk F, Prokisch H (2022) DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome. Brain 145(5):1624–1631. https://doi.org/10.1093/brain/awac052

Article  PubMed  PubMed Central  Google Scholar 

Ardissone A, Bruno C, Diodato D, Donati A, Ghezzi D, Lamantea E, Lamperti C, Mancuso M, Martinelli D, Primiano G, Procopio E, Rubegni A, Santorelli F, Schiaffino MC, Servidei S, Tubili F, Bertini E, Moroni I (2021) Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases. Orphanet J Rare Dis 16:413. https://doi.org/10.1186/s13023-021-02029-3

Article  PubMed  PubMed Central  Google Scholar 

留言 (0)

沒有登入
gif