BMJ Case Reports 2017; doi:10.1136/bcr-2017-220934
  • New disease

MELAS syndrome associated with a new mitochondrial tRNA-Val gene mutation (m.1616A>G)

  1. Kazuo Satomi
  1. Department of Neurology, Gifu Municipal Hospital, Gifu City, Japan
  1. Correspondence to Dr Yuji Tanaka, yutanaka-gif{at}
  • Accepted 3 August 2017
  • Published 11 September 2017


We describe the case of a 40-year-old-man with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome, with cardiomyopathy and severe heart failure. He had a mitochondrial transfer RNA (tRNA) mutation (m.1616A>G) of the (tRNA-Val) gene, and it was not found in MELAS syndrome ever before. The presence of this newly observed tRNA-Val mutation (m.1616A>G) may induce multiple respiratory chain enzyme deficiencies and contribute to MELAS syndrome symptoms that are associated with mitochondrial DNA (mtDNA) mutations. We report that the pathognomonic symptom in MELAS syndrome caused by this newly observed mtDNA mutation may be rapid progression of cardiomyopathy and severe heart failure.


  • Contributors YT: acquisition of data and analysis. YT: corresponding author. KS: study supervision.

  • Competing interests None declared.

  • Patient consent Obtained from guardian.

  • Provenance and peer review Not commissioned; externally peer reviewed.

Register for free content

The full text of all Editor's Choice articles and summaries of every article are free without registration

The full text of Images in ... articles are free to registered users

Only fellows can access the full text of case reports (apart from Editor's Choice) - become a fellow today, or encourage your institution to, so that together we can grow and develop this resource

Don't forget to sign up for content alerts so you keep up to date with all the case reports as they are published, and let us know what you think by commenting on the Editor's blog

Navigate This Article