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

Takahiro Ikeda; Hitoshi Osaka; Hiroko Shimbo; Makiko Tajika; Masayo Yamazaki; Ayako Ueda; Kei Murayama; Takanori Yamagata

doi:10.1038/s41439-018-0026-6

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

Hum Genome Var. 2018 Sep 4:5:25. doi: 10.1038/s41439-018-0026-6. eCollection 2018.

Authors

Takahiro Ikeda¹, Hitoshi Osaka¹, Hiroko Shimbo², Makiko Tajika³, Masayo Yamazaki¹, Ayako Ueda¹, Kei Murayama³, Takanori Yamagata¹

Affiliations

¹ 1Division of Pediatrics, Jichi Medical University, Shimotsuke, Tochigi Japan.
² 2Department of Pediatric Neurology, Kanagawa Children's Medical Center, Yokohama, Kanagawa Japan.
³ 3Department of Metabolism, Chiba Children's Hospital, Chiba, Chiba, Japan.

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 tRNA^{Leu (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.

Publication types

Case Reports