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Bratisl Lek Listy ; 115(1): 7-13, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24471895

RESUMO

AIM: To determine the presence of delta deletion 4977 in mitochondrial DNA in patients with Idiopathic Parkinson's disease (IPD). MATERIAL AND METHODS: This has been a prospective, clinically genetic study, lasting for whole two years. The clinical part of this study was made at the University Clinic of Neurology in Skopje, Unit for extrapyramidal diseases. The laboratory-genetic part of the study was elaborated at the Laboratory for molecular biology at the Institute for Biology, Faculty of Sciences, University "Sts. Cyril and Methodius". This study comprised a total of 32 subjects with a clinically verified diagnosis for idiopathic Parkinson's disease; 18 men and 14 women (with mean age of 52.7 years). Control group consisted of 31 randomly selected, literally healthy persons, at similar age, with similar gender distribution, and no clinical and anamnestic data for parkinsonism or similar clinical entities. RESULTS: Objective neurologic results of all 32 investigated subjects (100%) showed presence of rigor, tremor and bradykinesia.The difference tested between the investigated and control group, concerning the present or absent deletion and heteroplasmia, has been highly statistically significant (p=0.001). CONCLUSION: It could be concluded with a great statistical significance that deletion 4977 in mitochondrial genome has been registered more frequently in the group of patients with IPD (Tab. 10, Fig. 6, Ref. 36).


Assuntos
Sequência de Bases , DNA Mitocondrial/genética , Doença de Parkinson/genética , Deleção de Sequência , Adulto , Idoso , Estudos de Casos e Controles , Primers do DNA , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/diagnóstico , Estudos Prospectivos
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