Wynik wyszukiwania w bazie Polska Bibliografia Lekarska GBL

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Tytuł oryginału: N-acetyltransferase 2 polymorphism in sporadic Parkinson's disease in a Polish population.
Autorzy: Białecka Monika, Gawrońska-Szklarz Barbara, Droździk Marek, Honczarenko Krystyna, Stankiewicz Jan
Źródło: Eur. J. Clin. Pharmacol. 2002: 57 (12) s.857-862, il., tab., bibliogr. 28 poz.
Sygnatura GBL: 312,148

Hasła klasyfikacyjne GBL:
  • genetyka
  • neurologia

    Typ dokumentu:
  • praca kliniczna
  • praca opublikowana za granicą
  • tytuł obcojęzyczny

    Wskaźnik treści:
  • ludzie
  • dorośli 19-44 r.ż.
  • dorośli 45-64 r.ż.
  • dorośli = 65 r.ż.

    Streszczenie angielskie: Objective: A genetic background of Parkinson's disease has been suggested, including genes implicated in xenobiotic metabolism. So far, many candidate genes responsible for the occurrence of the disease have been enumerated. This study was carried out to determine the presence of N-acetyltransferase 2 polymorphism in Parkinson's disease patients in a Polish population. Methods: Fifty-four patients with diagnosed sporadic Parkinson's disease and 81 healthy individuals were enrolled into the study. The N-acetyltransferase 2 alleles (*4, *5, *6 and *7) were identified using polymerase chain reaction-restriction fragment length polymorphism methods with DNA extracted from peripheral blood. Results: A preponderance of slow acetylators in patients with Parkinson's disease was demonstrated. Among 54 subjects with parkinsonism, 64.8 p.c. were homozygous for two mutated alleles responsible for the slow-acetylator phenotype. In the control group, a predominance of fast acetylators was noted. Subjects homozygous and heterozygous with genotypes determining fast acetylation constituting 53 p.c. of subjects, whereas 47 p.c. were slow acetylators. Comparison of the two groups of the study, i.e. Parkinson's disease and healthy individuals, revealed a statistically significant predominance of slow acetylators in Parkinson's disease patients (P 0.05). The risk of Parkinson's disease development was more than two times greater in slow acetylators than healthy subjects. The frequency of point mutations was similar both in patients with Parkinson's disease and the healthy cotrols. Conclusion: Slow-acetylation genotype may be an important factor of individual susceptibility to Parkinson's disease.

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