A novel variant m.641A>T in the mitochondrial MT-TF gene is associated with epileptic encephalopathy in adolescent.

Autor: Itkis Y; Department of Inborn Errors of Metabolism, FSBI 'Research Centre for Medical Genetics', Moscow, Russia. Electronic address: yulya.itkis@gmail.com., Krylova T; Department of Inborn Errors of Metabolism, FSBI 'Research Centre for Medical Genetics', Moscow, Russia., Pechatnikova NL; Morozov Municipal Children's Hospital of Moscow City, Russia., De Grassi A; Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari, Bari, Italy., Tabakov VY; Common Use Center 'Biobank', FSBI 'Research Centre for Medical Genetics', Moscow, Russia., Pierri CL; Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari, Bari, Italy., Aleshin V; Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Moscow, Russia; Belozersky Institute of Physicochemical Biology, Lomonosov Moscow State University, Moscow, Russia., Boyko A; Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Moscow, Russia., Bunik VI; Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Moscow, Russia; Belozersky Institute of Physicochemical Biology, Lomonosov Moscow State University, Moscow, Russia., Zakharova EY; Department of Inborn Errors of Metabolism, FSBI 'Research Centre for Medical Genetics', Moscow, Russia.
Jazyk: angličtina
Zdroj: Mitochondrion [Mitochondrion] 2019 Jul; Vol. 47, pp. 10-17. Date of Electronic Publication: 2019 Apr 19.
DOI: 10.1016/j.mito.2019.04.004
Abstrakt: We present a 14-year-old girl with loss of motor functions, tetraplegia, epilepsy and nystagmus, caused by a novel heteroplasmic m.641A>T transition in an evolutionary conserved region of mitochondrial genome, affecting the aminoacyl stem of mitochondrial tRNA-Phe. In silico prediction, respirometry, Western blot and enzymatic analyses in skin fibroblasts support the pathogenicity of the m.641A>T substitution. This is the 18th MT-TF point mutation associated with a mitochondrial disorder. The onset and the severity of the disease, however, is unique in this case and broadens the clinical picture related to mutations of mitochondrial tRNA-Phe.
(Copyright © 2019 Elsevier B.V. and Mitochondria Research Society. All rights reserved.)
Databáze: MEDLINE
Externí odkaz: