Mitochondrial DNA 3252A>G mutation presenting as MERRF/MELAS overlapping syndrome: A case report

Authors

  • Yin Yin Tan Neurology Department, Hospital Kuala Lumpur, Kuala Lumpur
  • Ting Yoong Tee Neurology Department, Hospital Kuala Lumpur, Kuala Lumpur
  • Farn Ye Chew Neurology Department, Hospital Kuala Lumpur, Kuala Lumpur
  • Huey Tean Kok Neurology Department, Hospital Kuala Lumpur, Kuala Lumpur
  • Nor Haizura Abd Rani Pathology Department, Hospital Kuala Lumpur, Kuala Lumpur
  • Lock Hock Ngu Genetic Department, Hospital Kuala Lumpur, Kuala Lumpur
  • Shanthi Viswanathan Neurology Department, Hospital Kuala Lumpur, Kuala Lumpur

DOI:

https://doi.org/10.54029/2023tzs

Keywords:

myoclonic epilepsy with ragged red fibers (MERRF), mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), point mutation m.3252A>G, mitochondrial DNA

Abstract

We report a case of 25 years old male presented with a complex phenotype of myoclonic epilepsy with ragged red fibers (MERRF) and mitochondrial encephalomyopathy, lactic acidosis and stroke- like episodes (MELAS) harbouring m.3252A>G mutation in the mitochondrially encoded tRNA leucine 1 (UUA/G) [MT-TL1] gene encoding the mitochondrial transfer ribonucleic acid (tRNA) for leucine. He presented with frequent myoclonus seizure, stroke-like episodes, elevated blood lactate with muscle biopsy showed numerous ragged-red fibers suggestive of a mitochondrial disorder. Whole mitochondrial genome sequencing revealed no mutations other than the A-to-G transition at nucleotide position 3252. This case report is the first to describe the m.3252A>G mutation in association with the MERRF/MELAS overlap syndrome.

Published

2023-12-30

Issue

Vol. 28 No. 4 (2023)

Section

Case Report