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

BMJ Case Rep. 2017 Sep 11:2017:bcr2017220934. doi: 10.1136/bcr-2017-220934.

Abstract

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.

Keywords: muscle disease; neurology.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Asian People / genetics
  • Cardiomyopathies / complications*
  • Cardiomyopathies / genetics
  • DNA, Mitochondrial / genetics*
  • Diagnosis, Differential
  • Disease Progression
  • Fatal Outcome
  • Heart Failure / complications*
  • Heart Failure / genetics
  • Humans
  • MELAS Syndrome / diagnosis
  • MELAS Syndrome / genetics*
  • MELAS Syndrome / pathology
  • Male
  • Mitochondrial Diseases / enzymology*
  • Mitochondrial Diseases / genetics
  • Mutation*
  • RNA, Transfer, Val / genetics*

Substances

  • DNA, Mitochondrial
  • RNA, Transfer, Val