PARS2-associated mitochondrial disease: A case report of a patient with prolonged survival and literature review

Mohammed A. Almuqbil, Hilary J. Vernon, Marcia Ferguson, Antonie D. Kline

Research output: Contribution to journalArticlepeer-review

Abstract

Biallelic pathogenic variants in mitochondrial aminoacyl-tRNA synthetase (mt-aaRS) PARS2 are associated with mitochondrial cytopathy. Here, we report the tenth case of an individual with biallelic PARS2 pathogenic variants, detected by exome sequencing (ES), and a literature review of ten cases of PARS2 mutations. Our patient displayed symptoms and clinical and laboratory findings similar to those reported previously with normal lactate levels. These symptoms included seizure disorder (which was managed with antiepileptics), developmental delay, and progressive cardiomyopathy which manifested at 19 years of age. The patient received a vitamin regimen including antioxidants as part of his treatment regimen. While further studies are required to conclusively establish the beneficial role of vitamin and cofactor administration on the mitochondria in PARS2-associated mitochondrial disease, these factors may have delayed the onset of cardiomyopathy.

Original languageEnglish (US)
Article number100613
JournalMolecular Genetics and Metabolism Reports
Volume24
DOIs
StatePublished - Sep 2020

Keywords

  • Aminoacyl-tRNA synthetases
  • Exome sequencing
  • Mitochondrial
  • PARS2

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Endocrinology

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