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

Adolescent Brain Diseases / genetics Epilepsy / genetics Female Genes, Mitochondrial Genetic Diseases, Inborn / genetics Humans Mitochondria / genetics Point Mutation RNA, Mitochondrial / genetics RNA, Transfer, Phe / genetics
Encephalopathy Epilepsy MT-TF Mitochondrial disease Transfer RNA(Phe) mtDNA

Journal

Mitochondrion
ISSN: 1872-8278
Titre abrégé: Mitochondrion
Pays: Netherlands
ID NLM: 100968751

Informations de publication

Date de publication:
07 2019
Historique:
received: 03 12 2018
revised: 21 03 2019
accepted: 17 04 2019
pubmed: 23 4 2019
medline: 28 4 2020
entrez: 23 4 2019
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1016/j.mito.2019.04.004 PMID: 31009750
pubmed: 31009750
pii: S1567-7249(18)30290-3
doi: 10.1016/j.mito.2019.04.004
pii:
doi:

Substances chimiques

RNA, Mitochondrial 0
RNA, Transfer, Phe 0

Types de publication

Case Reports Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

10-17

Informations de copyright

Copyright © 2019 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

Auteurs

Yulia Itkis (Y)

Department of Inborn Errors of Metabolism, FSBI 'Research Centre for Medical Genetics', Moscow, Russia. Electronic address: yulya.itkis@gmail.com.

Tatiana Krylova (T)

Department of Inborn Errors of Metabolism, FSBI 'Research Centre for Medical Genetics', Moscow, Russia.

Natalia L Pechatnikova (NL)

Morozov Municipal Children's Hospital of Moscow City, Russia.

Anna De Grassi (A)

Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari, Bari, Italy.

Vyacheslav Yu Tabakov (VY)

Common Use Center "Biobank", FSBI 'Research Centre for Medical Genetics", Moscow, Russia.

Ciro Leonardo Pierri (CL)

Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari, Bari, Italy.

Vasily Aleshin (V)

Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Moscow, Russia; Belozersky Institute of Physicochemical Biology, Lomonosov Moscow State University, Moscow, Russia.

Alexandra Boyko (A)

Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Moscow, Russia.

Victoria I Bunik (VI)

Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Moscow, Russia; Belozersky Institute of Physicochemical Biology, Lomonosov Moscow State University, Moscow, Russia.

Ekaterina Yu Zakharova (EY)

Department of Inborn Errors of Metabolism, FSBI 'Research Centre for Medical Genetics', Moscow, Russia.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › A novel variant m.641A>T in the mitochondrial...
questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Encéphalopathies › A novel variant m.641A>T in the mitochondrial...
questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Encéphalopathies › Épilepsie › A novel variant m.641A>T in the mitochondrial...
questionsmedicales.fr › Phénomènes génétiques › Modes de transmission héréditaire › Hérédité extrachromosomique › Gènes de mitochondrie › A novel variant m.641A>T in the mitochondrial...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › A novel variant m.641A>T in the mitochondrial...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A novel variant m.641A>T in the mitochondrial...
questionsmedicales.fr › Cellules › Structures cellulaires › Fractions subcellulaires › Mitochondries › A novel variant m.641A>T in the mitochondrial...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation ponctuelle › A novel variant m.641A>T in the mitochondrial...
questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Acides nucléiques › ARN › ARN mitochondrial › A novel variant m.641A>T in the mitochondrial...
questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Acides nucléiques › ARN › ARN de transfert › ARN de transfert spécifiques des différents acides aminés › ARN de transfert de la phénylalanine › A novel variant m.641A>T in the mitochondrial...