Screening for MELAS mutations in young patients with stroke of undetermined origin

Arq Neuropsiquiatr. 2007 Jun;65(2B):371-6. doi: 10.1590/s0004-282x2007000300001.


Purpose: It has been suggested that mitochondrial disease may be responsible for a substantial proportion of strokes of indetermined origin. We have preliminarily screened for MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) mutations in young patients with cryptogenic strokes.

Method: The mitochondrial mutations A3243G and T3271C were investigated in 38 subjects aged less than 46 years. Group 1: 15 patients with cryptogenic strokes; Group 2: 3 patients with diagnosis of MELAS syndrome, including stroke-like episodes; Group 3: 20 healthy subjects.

Results: The A3243G mutation was absent in all subjects in Groups 1 and 3 but was present in all subjects in Group 2.

Conclusion: Our results do not support screening for these mutations to diagnose oligosymptomatic forms of MELAS in cryptogenic strokes in the absence of other features of the syndrome. We suggest that clinical findings should guide mitochondrial genetic testing.

MeSH terms

  • Adolescent
  • Adult
  • Case-Control Studies
  • DNA, Mitochondrial / genetics*
  • Female
  • Humans
  • MELAS Syndrome / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Mass Screening
  • Mutation / genetics*
  • Pedigree
  • Polymerase Chain Reaction
  • Stroke / genetics*


  • DNA, Mitochondrial