MELAS syndrome associated with both A3243G-tRNALeu mutation and multiple mitochondrial DNA deletions

Sharon Aharoni, Teres A. Traves, Eldad Melamed, Sarit Cohen, Esther Leshinsky Silver

Research output: Contribution to journalArticlepeer-review

Abstract

The syndrome of mitochondrial encephalopathy, lactic acidosis, and stroke-like episode (MELAS) is characterized clinically by recurrent focal neurological deficits, epilepsy, and short stature. The phenotypic spectrum is extremely diverse, with multisystemic organ involvement leading to isolated diabetes, deafness, renal tubulopathy, hypertrophic cardiomyopathy, and retinitis pigmentosa. In 80% of cases, the syndrome is associated with an AG transmission mutation (A3243G) in the tRNALeu gene of the mitochondrial DNA (mtDNA). We describe a woman with a unique combination of the MELAS A3243G mutation and multiple mtDNA deletions with normal POLG sequence. The patient presented with diabetes mellitus, sensorineural deafness, short stature, and mental disorientation. All her three children died in early adolescence.

Original languageEnglish
Pages (from-to)101-103
Number of pages3
JournalJournal of the Neurological Sciences
Volume296
Issue number1-2
DOIs
StatePublished - 15 Sep 2010

Keywords

  • MELAS syndrome
  • Multiple deletions
  • mtDNA
  • tRNALeu

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