Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome
| Autor: | Masayo Yamazaki, Takanori Yamagata, Hiroko Shimbo, Makiko Tajika, Ayako Ueda, Takahiro Ikeda, Kei Murayama, Hitoshi Osaka |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Genetics Mitochondrial DNA Transition (genetics) lcsh:QH426-470 Encephalopathy lcsh:Life Biology medicine.disease MELAS syndrome Biochemistry Heteroplasmy 03 medical and health sciences lcsh:Genetics lcsh:QH501-531 030104 developmental biology 0302 clinical medicine Mitochondrial myopathy Lactic acidosis Mutation (genetic algorithm) medicine Data Report Molecular Biology 030217 neurology & neurosurgery |
| Zdroj: | Human Genome Variation, Vol 5, Iss 1, Pp 1-4 (2018) Human Genome Variation |
| DOI: | 10.1038/s41439-018-0026-6 |
| Popis: | Approximately 80% of cases of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) harbor a heteroplasmic m.3243A>G transition in the tRNALeu (UUR) (MTTL1) gene. We report a MELAS case with a rare heteroplasmic m.3243A>T mutation found by direct sequencing of MTTL1. This mutation has been previously reported in 5 cases, of which 2 cases had the MELAS phenotype. Our case also strengthens the hypothesis that the m.3243A>T mutation can cause the MELAS phenotype. |
| Databáze: | OpenAIRE |
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