Itkis 2019 Mitochondrion: Difference between revisions
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{{Labeling | {{Labeling | ||
|area=Respiration, mtDNA;mt-genetics | |area=Respiration, mtDNA;mt-genetics, Patients | ||
|injuries=Mitochondrial disease | |injuries=Mitochondrial disease | ||
|organism=Human | |||
|tissues=Fibroblast | |||
|preparations=Intact cells, Permeabilized cells | |||
|couplingstates=LEAK, ROUTINE, OXPHOS, ET | |||
|pathways=N, CIV, NS, ROX | |||
|instruments=Oxygraph-2k | |instruments=Oxygraph-2k | ||
|additional=Labels, 2019-04, | |additional=Labels, 2019-04, | ||
}} | }} | ||
Revision as of 14:31, 23 April 2019
| 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]. |
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: Intact cells, Permeabilized cells
Coupling state: LEAK, ROUTINE, OXPHOS, ET
Pathway: N, CIV, NS, ROX
HRR: Oxygraph-2k
Labels, 2019-04
