A novel homozygous missense mutation in the FASTKD2 gene leads to Lennox-Gastaut syndrome – Journal of Human Genetics

  • Ohkubo A, Van Haute L, Rudler DL, Stentenbach M, Steiner FA, Rackham O. et al. The FASTK family proteins fine-tune mitochondrial RNA processing. Plos Genet. 2021;17:e1009873. https://doi.org/10.1371/journal.pgen.1009873.

    CAS 
    Article 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Popow J, Alleaume AM, Curk T, Schwarzl T, Sauer S, Hentze MW. FASTKD2 is an RNA-binding protein required for mitochondrial RNA processing and translation. RNA. 2015;21:1873–84. https://doi.org/10.1261/rna.052365.115.

    CAS 
    Article 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Jourdain AA, Popow J, de la Fuente MA, Martinou JC, Anderson P, Simarro M. The FASTK family of proteins: emerging regulators of mitochondrial RNA biology. Nucleic Acids Res. 2017;45:10941–7. https://doi.org/10.1093/nar/gkx772.

    CAS 
    Article 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Boehm E, Zaganelli S, Maundrell K, Jourdain AA, Thore S, Martinou JC. FASTKD1 and FASTKD4 have opposite effects on expression of specific mitochondrial RNAs, depending upon their endonuclease-like RAP domain. Nucleic Acids Res. 2017;45:6135–46. https://doi.org/10.1093/nar/gkx164.

    CAS 
    Article 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Boehm E, Zornoza M, Jourdain AA, Delmiro Magdalena A, García-Consuegra I, Torres Merino R. et al. Role of FAST Kinase Domains 3 (FASTKD3) in Post-transcriptional regulation of mitochondrial gene expression. J Biol Chem. 2016;291:25877–87. https://doi.org/10.1074/jbc.M116.730291.

    CAS 
    Article 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Jourdain AA, Koppen M, Rodley CD, Maundrell K, Gueguen N, Reynier P. et al. A mitochondria-specific isoform of FASTK is present in mitochondrial RNA granules and regulates gene expression and function. Cell Rep. 2015;10:1110–21. https://doi.org/10.1016/j.celrep.2015.01.063.

    CAS 
    Article 
    PubMed 

    Google Scholar
     

  • Ghezzi D, Saada A, D’Adamo P, Fernandez-Vizarra E, Gasparini P, Tiranti V. et al. FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. Am J Hum Genet. 2008;83:415–23. https://doi.org/10.1016/j.ajhg.2008.08.009.

    CAS 
    Article 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Simarro M, Gimenez-Cassina A, Kedersha N, Lazaro JB, Adelmant GO, Marto JA. et al. Fast kinase domain-containing protein 3 is a mitochondrial protein essential for cellular respiration. Biochem Biophys Res Commun. 2010;401:440–6. https://doi.org/10.1016/j.bbrc.2010.09.075.

    CAS 
    Article 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Lee I, Hong W. RAP-a putative RNA-binding domain. Trends Biochem Sci. 2004;29:567–70. https://doi.org/10.1016/j.tibs.2004.09.005.

    CAS 
    Article 
    PubMed 

    Google Scholar
     

  • Das S, Yeung KT, Mahajan MA, Samuels HH. Fas Activated Serine-Threonine Kinase Domains 2 (FASTKD2) mediates apoptosis of breast and prostate cancer cells through its novel FAST2 domain. BMC Cancer. 2014;14:852. https://doi.org/10.1186/1471-2407-14-852

    CAS 
    Article 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J. et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24. https://doi.org/10.1038/gim.2015.30.

    Article 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Chomczynski P, Sacchi N. The single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction: twenty-something years on. Nat Protoc. 2006;1:581–5. https://doi.org/10.1038/nprot.2006.83.

    CAS 
    Article 
    PubMed 

    Google Scholar
     

  • Wei X, Du M, Li D, Wen S, Xie J, Li Y. et al. Mutations in FASTKD2 are associated with mitochondrial disease with multi-OXPHOS deficiency. Hum Mutat. 2020;41:961–72. https://doi.org/10.1002/humu.23985.

    CAS 
    Article 
    PubMed 

    Google Scholar
     

  • Yoo DH, Choi YC, Nam DE, Choi SS, Kim JW, Choi BO. et al. Identification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome. Mitochondrion. 2017;35:54–58. https://doi.org/10.1016/j.mito.2017.05.005.

    CAS 
    Article 
    PubMed 

    Google Scholar
     

  • Benkirane M, Marelli C, Guissart C, Roubertie A, Ollagnon E, Choumert A. et al. High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families. Genet Med. 2021;23:2160–70. https://doi.org/10.1038/s41436-021-01250-6.

    CAS 
    Article 
    PubMed 

    Google Scholar
     

  • Arzimanoglou A, French J, Blume WT, Cross JH, Ernst JP, Feucht M. et al. Lennox-Gastaut syndrome: a consensus approach on diagnosis, assessment, management, and trial methodology. Lancet Neurol. 2009;8:82–93. https://doi.org/10.1016/S1474-4422(08)70292-8.

    Article 
    PubMed 

    Google Scholar
     

  • Lee S, Baek MS, Lee YM. Lennox-Gastaut syndrome in mitochondrial disease. Yonsei Med J. 2019;60:106–14. https://doi.org/10.3349/ymj.2019.60(1).1.106.

    Article 
    PubMed 

    Google Scholar
     

  • Antonicka H, Shoubridge EA. Mitochondrial RNA granules are centers for posttranscriptional rna processing and ribosome biogenesis. Cell Rep. 2015;10:920–32. https://doi.org/10.1016/j.celrep.2015.01.030.

    CAS 
    Article 
    PubMed 

    Google Scholar
     

  • Perks KL, Rossetti G, Kuznetsova I, Hughes LA, Ermer JA, Ferreira N. et al. PTCD1 is required for 16s rrna maturation complex stability and mitochondrial ribosome assembly. Cell Rep. 2018;23:127–42. https://doi.org/10.1016/j.celrep.2018.03.033.

    CAS 
    Article 
    PubMed 

    Google Scholar
     

  • Source link

    Comments are closed.