Mitokondriális DNS T4291C mutáció vizsgálata metabolikus szindrómában szenvedo betegekben

Translated title of the contribution: Search for mitochondrial DNA T4291C mutation in Hungarian patients with metabolic syndrome

A. Maász, Katalin Horvatovich, L. Magyari, G. Talián, Szilvia Bokor, Boglárka Laczy, Mónika Tamaskó, D. Molnár, I. Wittmann, B. Melegh

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

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 citidine transition was detected in homoplasmic form at position 4291 of the mitochondrial DNA (mtDNA) which affects the 5′ neighboring nucleoticle 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.

Original languageHungarian
Pages (from-to)693-696
Number of pages4
JournalOrvosi Hetilap
Volume147
Issue number15
Publication statusPublished - Apr 16 2006

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Mitochondrial DNA
Mutation
Anticodon
Isoleucine
Hypertriglyceridemia
Uridine
Transfer RNA
Hypercholesterolemia
Population
Insulin Resistance
Diabetes Mellitus
Obesity
Mothers
Pediatrics
Hypertension
DNA

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Mitokondriális DNS T4291C mutáció vizsgálata metabolikus szindrómában szenvedo betegekben. / Maász, A.; Horvatovich, Katalin; Magyari, L.; Talián, G.; Bokor, Szilvia; Laczy, Boglárka; Tamaskó, Mónika; Molnár, D.; Wittmann, I.; Melegh, B.

In: Orvosi Hetilap, Vol. 147, No. 15, 16.04.2006, p. 693-696.

Research output: Contribution to journalArticle

Maász, A. ; Horvatovich, Katalin ; Magyari, L. ; Talián, G. ; Bokor, Szilvia ; Laczy, Boglárka ; Tamaskó, Mónika ; Molnár, D. ; Wittmann, I. ; Melegh, B. / Mitokondriális DNS T4291C mutáció vizsgálata metabolikus szindrómában szenvedo betegekben. In: Orvosi Hetilap. 2006 ; Vol. 147, No. 15. pp. 693-696.
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abstract = "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 citidine transition was detected in homoplasmic form at position 4291 of the mitochondrial DNA (mtDNA) which affects the 5′ neighboring nucleoticle 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.",
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AU - Maász, A.

AU - Horvatovich, Katalin

AU - Magyari, L.

AU - Talián, G.

AU - Bokor, Szilvia

AU - Laczy, Boglárka

AU - Tamaskó, Mónika

AU - Molnár, D.

AU - Wittmann, I.

AU - Melegh, B.

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AB - 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 citidine transition was detected in homoplasmic form at position 4291 of the mitochondrial DNA (mtDNA) which affects the 5′ neighboring nucleoticle 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.

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