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Itkis 2019 Mitochondrion

From Bioblast
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 [Epub ahead of print].

Β» 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 Β© 2018. Published by Elsevier B.V. β€’ Keywords: Encephalopathy, Epilepsy, MT-TF, Mitochondrial disease, Transfer RNA(Phe), mtDNA β€’ Bioblast editor: Plangger M β€’ O2k-Network Lab: RU Moscow Itkis YS


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

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


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

Labels, 2019-04