Difference between revisions of "Itkis 2019 Mitochondrion"
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{{Publication | {{Publication | ||
|title=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 | |title=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. | ||
|info=[https://www.ncbi.nlm.nih.gov/pubmed/31009750Β PMID: 31009750] | |info=[https://www.ncbi.nlm.nih.gov/pubmed/31009750Β PMID: 31009750] | ||
|authors=Itkis Y, Krylova T, Pechatnikova NL, De Grassi A, Tabakov VY, Pierri CL, Aleshin V, Boyko A, Bunik VI, Zakharova EY | |authors=Itkis Y, Krylova T, Pechatnikova NL, De Grassi A, Tabakov VY, Pierri CL, Aleshin V, Boyko A, Bunik VI, Zakharova EY | ||
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|organism=Human | |organism=Human | ||
|tissues=Fibroblast | |tissues=Fibroblast | ||
|preparations= | |preparations=Permeabilized cells, Intact cells | ||
|couplingstates=LEAK, ROUTINE, OXPHOS, ET | |couplingstates=LEAK, ROUTINE, OXPHOS, ET | ||
|pathways=N, CIV, NS, ROX | |pathways=N, CIV, NS, ROX |
Latest revision as of 12:14, 9 July 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 47:10-17. |
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: Permeabilized cells, Intact cells
Coupling state: LEAK, ROUTINE, OXPHOS, ET
Pathway: N, CIV, NS, ROX
HRR: Oxygraph-2k
Labels, 2019-04