Itkis 2019 Mitochondrion

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Publications in the MiPMap
Itkis Y, Krylova T, Pechatnikova NL, De Grassi A, Tabakov VY, Pierri CL, Aleshin V, Boyko A, Bunik VI, Zakharova EY (2019) A novel variant m.641A>T in the mitochondrial MT-TF gene is associated with epileptic encephalopathy in adolescent. Mitochondrion 47:10-17.

» PMID: 31009750

Itkis Y, Krylova T, Pechatnikova NL, De Grassi A, Tabakov VY, Pierri CL, Aleshin V, Boyko A, Bunik VI, Zakharova EY (2019) Mitochondrion

Abstract: 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 © 2018. Published by Elsevier B.V.

Keywords: Encephalopathy, Epilepsy, MT-TF, Mitochondrial disease, Transfer RNA(Phe), mtDNA Bioblast editor: Plangger M O2k-Network Lab: RU Moscow Itkis YS


Labels: MiParea: Respiration, mtDNA;mt-genetics, Patients 

Stress:Mitochondrial disease  Organism: Human  Tissue;cell: Fibroblast  Preparation: Permeabilized cells, Intact cells 


Coupling state: LEAK, ROUTINE, OXPHOS, ET  Pathway: N, CIV, NS, ROX  HRR: Oxygraph-2k 

Labels, 2019-04