Introduction: Metabolic syndrome affects 15-30 percentage of the population. It is characterized by obesity, hypertension, diabetes mellitus, insulin resistance, hypercholesterolemia and hypertriglyceridemia.
Aims: In a recent study metabolic syndrome was shown to be transmitted on maternal lineage in a large family; an uridine to cytidine transition was detected in homoplasmic form at position 4291 of the mitochondrial DNA (mtDNA) which affects the 5' neighboring nucleotide to the anticodon of the isoleucine-tRNA.
Methods: Using specific restriction analysis and direct sequencing for detection of this mutation the authors genotyped 365 DNA samples which were collected from 164 adult and 119 pediatric patients with metabolic syndrome.
Results and conclusions: The T4291C mtDNA variant could not be detected in any of these patients suggesting that this alteration is likely rare in the Hungarian metabolic syndrome population.