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| RESPIRATION-DEFICIENT CELLS ARE CAUSED BY A SINGLE POINT MUTATION IN THE MITOCHONDRIAL TRANSFER RNA-LEU (UUR) GENE IN MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC-ACIDOSIS, AND STROKE-LIKE EPISODES (MELAS) |
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| Author(s): KOBAYASHI Y, MOMOI MY, TOMINAGA K, SHIMOIZUMI H, NIHEI K, YANAGISAWA M, KAGAWA Y, OHTA S |
| Source: AMERICAN JOURNAL OF HUMAN GENETICS Volume: 49 Issue: 3 Pages: 590-599 Published: SEP 1991 |
| Times Cited: 85 References: 39 |
| Abstract: MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes) is a major subgroup of heterogeneous mitochondrial diseases. For identifying a mutation in the mitochondrial gene, we isolated, from the same muscle tissue from a patient with MELAS, cell lines with distinctly different phenotypes: one was respiration-deficient, and the other was apparently normal. Compared with the normal cells only one A-to-G nucleotide transition at nucleotide 3243 in the tRNA-Leu (UUR) gene was found in whole mtDNA of the respiration-deficient cells. This mutation was also found in eight patients, from unrelated families, who had MELAS in a heteroplasmic manner but was not found in control individuals. Therefore, the single point mutation causes the functional abnormality in the respiratory chain of mitochondria. |
| Document Type: Article |
| Language: English |
Addresses:
1. JICHI MED SCH, DEPT BIOCHEM, MINAMI KAWACHI, TOCHIGI 32904 JAPAN
2. NATL CHILDRENS HOSP, DEPT NEUROL, TOKYO 154, JAPAN |
| Publisher: UNIV CHICAGO PRESS, 5720 S WOODLAWN AVE, CHICAGO, IL 60637 |
| Subject Category: Genetics & Heredity |
| IDS Number: GE367 |
| ISSN: 0002-9297 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |