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2 results on '"Mitochondrial tRNA quantification"'

1. Mitochondrial tRNA valine as a recurrent target for mutations involved in mitochondrial cardiomyopathies

Author

Arredondo, Juan J., Gallardo, M. Esther, García-Pavía, Pablo, Domingo, Verónica, Bretón, Begoña, García-Silva, M. Teresa, Sedano, M. Jesús, Martín, Miguel A., Arenas, Joaquín, Cervera, Margarita, Garesse, Rafael, and Bornstein, Belén

Subjects
*MITOCHONDRIAL DNA, *TRANSFER RNA, *GENETIC mutation, *CARDIOMYOPATHIES, *GENETIC disorders, *NUCLEOTIDE sequence, *MITOCHONDRIAL pathology
Abstract

Abstract: The aim of this study was to identify the genetic defect in two patients having cardiac dysfunction accompanied by neurological symptoms, and in one case MRI evidence of cortical and cerebellar atrophy with hyperintensities in the basal ganglia. Muscle biopsies from each patient revealed single and combined mitochondrial respiratory chain deficiency. The complete mtDNA sequencing of both patients revealed two transitions in the mitochondrial tRNAVal gene (MT-TV) (m.1628C>T in Patient 1, and m.1644G>A in Patient 2). The functional and molecular analyses reported here suggest that the MT-TV gene should be routinely considered in the diagnosis of mitochondrial cardiomyopathies. [Copyright &y& Elsevier]

Published
2012
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2. Mitochondrial tRNA valine as a recurrent target for mutations involved in mitochondrial cardiomyopathies

Author

Joaquín Arenas, Belén Bornstein, Pablo García-Pavía, Juan J. Arredondo, M. Teresa García-Silva, Margarita Cervera, Begoña Bretón, Rafael Garesse, Miguel A. Martín, M. Jesús Sedano, M. Esther Gallardo, and Verónica Domingo

Subjects
Adult, Male, Mitochondrial DNA, Mitochondrial Diseases, Adolescent, RNA, Mitochondrial, DNA Mutational Analysis, Mitochondrial diseases, Biology, medicine.disease_cause, Bioinformatics, DNA, Mitochondrial, Basal ganglia, medicine, Humans, Molecular Biology, Gene, RNA, Transfer, Val, Biología y Biomedicina, Mutation, A%22">m.1644G>A, RNA, Cell Biology, Sequence Analysis, DNA, Mitochondrial tRNA quantification, Hyperintensity, Mitochondrial respiratory chain, Molecular Medicine, Cerebellar atrophy, T%22">m.1628C>T, Cardiomyopathies
Abstract

The aim of this study was to identify the genetic defect in two patients having cardiac dysfunction accompanied by neurological symptoms, and in one case MRI evidence of cortical and cerebellar atrophy with hyperintensities in the basal ganglia. Muscle biopsies from each patient revealed single and combined mitochondrial respiratory chain deficiency. The complete mtDNA sequencing of both patients revealed two transitions in the mitochondrial tRNA Val gene (MT-TV) (m.1628C>T in Patient 1, and m.1644G>A in Patient 2). The functional and molecular analyses reported here suggest that the MT-TV gene should be routinely considered in the diagnosis of mitochondrial cardiomyopathies. © 2011 Elsevier B.V. and Mitochondria Research Society., This work was supported by Grants PI060205 (to B.B.), PI070167 (to R.G.), and PI060547 (to M.A.M.) from the Instituto de Salud Carlos III (ISCIII), Ministry of Science and Innovation (MICIN); and GEN-0269/2006 from the Comunidad de Madrid (CM) (to M.A.M. and R.G.).

Published
2011

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