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Case Reports
. 2018 Sep 4:5:25.
doi: 10.1038/s41439-018-0026-6. eCollection 2018.

Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome

Takahiro Ikeda  1 , Hitoshi Osaka  1 , Hiroko Shimbo  2 , Makiko Tajika  3 , Masayo Yamazaki  1 , Ayako Ueda  1 , Kei Murayama  3 , Takanori Yamagata  1
Affiliations
Case Reports

Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome

Takahiro Ikeda et al. Hum Genome Var. .

Abstract

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.

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Conflict of interest statement

The authors declare that they have no conflict of interest.

Figures

Fig. 1
Fig. 1. Sequential changes in MRI.
(a) Brain MRI on admission shows small multifocal gray matter regions in the right temporal, parietal, and occipital lobes, and diffuse white matter lesions in the left temporal lobe, visualized as high-intensity areas in FLAIR images (left). White matter lesions in the left temporal lobe show low intensity in diffusion-weighted images (right). b Extended white matter and left thalamic lesions appeared after a stroke-like episode
Fig. 2
Fig. 2. Direct sequencing of MTTL1 from blood revealed the m.3243A>T mutation.
Sequencing chromatogram of the MTTL1 gene shows the heteroplasmic m.3243A>T mutation in the control sample and in blood, hair, nail, saliva, and fibroblasts from the patient
See this image and copyright information in PMC

References

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