BIOMAT Database Logo BIOMAT Database Logo

Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). 1991

M Tanaka, and H Ino, and K Ohno, and T Ohbayashi, and S Ikebe, and T Sano, and T Ichiki, and M Kobayashi, and Y Wada, and T Ozawa
Department of Biomedical Chemistry, Faculty of Medicine, University of Nagoya, Japan.

The total sequences of mitochondrial DNA were determined in two patients with juvenile-onset mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) due to Complex I deficiency. Patients 1 and 2 had three and two unique point mutations, respectively, causing replacement of phylogenically conserved amino acids. A transition from G to A was found at nucleotide position 5601 in the alanine tRNA gene of Patient 2, and a transition from A to G was found at 3243 in the leucine (UUR) tRNA gene of both patients. The latter mutation located at the phylogenically conserved 5' end of the dihydrouridine loop of the tRNA molecule, and was present in two patients with adult-onset MELAS and absent in controls. These results indicate that a mass of mtDNA mutations including the A-to-G transition in the tRNA(Leu) gene is a genetic cause of MELAS.

UI MeSH Term Description Entries
D008297 Male Males
D008661 Metabolism, Inborn Errors Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. Inborn Errors of Metabolism,Metabolism Errors, Inborn,Error, Inborn Metabolism,Errors Metabolism, Inborn,Errors Metabolisms, Inborn,Errors, Inborn Metabolism,Inborn Errors Metabolism,Inborn Errors Metabolisms,Inborn Metabolism Error,Inborn Metabolism Errors,Metabolism Error, Inborn,Metabolism Inborn Error,Metabolism Inborn Errors,Metabolisms, Inborn Errors
D008931 Mitochondria, Muscle Mitochondria of skeletal and smooth muscle. It does not include myocardial mitochondria for which MITOCHONDRIA, HEART is available. Sarcosomes,Mitochondrion, Muscle,Muscle Mitochondria,Muscle Mitochondrion,Sarcosome
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D009690 Nucleic Acid Conformation The spatial arrangement of the atoms of a nucleic acid or polynucleotide that results in its characteristic 3-dimensional shape. DNA Conformation,RNA Conformation,Conformation, DNA,Conformation, Nucleic Acid,Conformation, RNA,Conformations, DNA,Conformations, Nucleic Acid,Conformations, RNA,DNA Conformations,Nucleic Acid Conformations,RNA Conformations
D011808 Quinone Reductases NAD(P)H:(quinone acceptor) oxidoreductases. A family that includes three enzymes which are distinguished by their sensitivity to various inhibitors. EC 1.6.99.2 (NAD(P)H DEHYDROGENASE (QUINONE);) is a flavoprotein which reduces various quinones in the presence of NADH or NADPH and is inhibited by dicoumarol. EC 1.6.99.5 (NADH dehydrogenase (quinone)) requires NADH, is inhibited by AMP and 2,4-dinitrophenol but not by dicoumarol or folic acid derivatives. EC 1.6.99.6 (NADPH dehydrogenase (quinone)) requires NADPH and is inhibited by dicoumarol and folic acid derivatives but not by 2,4-dinitrophenol. Menaquinone Reductases,Reductases, Menaquinone,Reductases, Quinone
D004272 DNA, Mitochondrial Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins. Mitochondrial DNA,mtDNA
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

Related Publications

M Tanaka, and H Ino, and K Ohno, and T Ohbayashi, and S Ikebe, and T Sano, and T Ichiki, and M Kobayashi, and Y Wada, and T Ozawa
[MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes)].
January 2001, Ryoikibetsu shokogun shirizu,
M Tanaka, and H Ino, and K Ohno, and T Ohbayashi, and S Ikebe, and T Sano, and T Ichiki, and M Kobayashi, and Y Wada, and T Ozawa
[Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes(MELAS)].
March 2021, No shinkei geka. Neurological surgery,
M Tanaka, and H Ino, and K Ohno, and T Ohbayashi, and S Ikebe, and T Sano, and T Ichiki, and M Kobayashi, and Y Wada, and T Ozawa
[MELAS (mitochondrial myopathy, encephalopathy lactic acidosis, and stroke-like episodes): clinical features and mitochondrial DNA mutations].
September 1993, Nihon rinsho. Japanese journal of clinical medicine,
M Tanaka, and H Ino, and K Ohno, and T Ohbayashi, and S Ikebe, and T Sano, and T Ichiki, and M Kobayashi, and Y Wada, and T Ozawa
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).
January 1997, Clinical neuropathology,
M Tanaka, and H Ino, and K Ohno, and T Ohbayashi, and S Ikebe, and T Sano, and T Ichiki, and M Kobayashi, and Y Wada, and T Ozawa
Tissue distribution of mutant mitochondrial DNA in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).
January 1993, Journal of inherited metabolic disease,
M Tanaka, and H Ino, and K Ohno, and T Ohbayashi, and S Ikebe, and T Sano, and T Ichiki, and M Kobayashi, and Y Wada, and T Ozawa
[Higher Brain Dysfunction in Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS)].
February 2016, Brain and nerve = Shinkei kenkyu no shinpo,
M Tanaka, and H Ino, and K Ohno, and T Ohbayashi, and S Ikebe, and T Sano, and T Ichiki, and M Kobayashi, and Y Wada, and T Ozawa
[Mitochondrial encephalomyopathy: a case with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes)].
February 1985, Rinsho shinkeigaku = Clinical neurology,
M Tanaka, and H Ino, and K Ohno, and T Ohbayashi, and S Ikebe, and T Sano, and T Ichiki, and M Kobayashi, and Y Wada, and T Ozawa
Treatment options for mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.
November 2010, Pharmacotherapy,
M Tanaka, and H Ino, and K Ohno, and T Ohbayashi, and S Ikebe, and T Sano, and T Ichiki, and M Kobayashi, and Y Wada, and T Ozawa
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy.
July 1997, European journal of pediatrics,
M Tanaka, and H Ino, and K Ohno, and T Ohbayashi, and S Ikebe, and T Sano, and T Ichiki, and M Kobayashi, and Y Wada, and T Ozawa
A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS).
March 2019, Mitochondrion,
Copied contents to your clipboard!