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


METHODS
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.


CONCLUSIONS
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.
Neurology Division, Hospital das Clínicas/São Paulo University, São Paulo, SP, Brazil. abconf@yahoo.com
Adriana Bastos
AB
Conforto
Fabio Iuji
FI
Yamamoto
Sueli Mieko
SM
Oba-Shinjo
Julio Guy C
JG
Pinto
Maurício
M
Hoshino
Milberto
M
Scaff
Suely Kazue Nagahashi
SK
Marie
D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D017241:MELAS Syndrome / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008403:Mass Screening; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D020521:Stroke / Q000235:genetics*
D004272:DNA, Mitochondrial