GENETIC MUTATIONS IN PARKINSON'S DISEASE

Abstract

PARKINSON'S DISEASE (PD) IS CHARACTERIZED BY SELECTIVE LOSS OF DOPAMINERGIC NEURONS IN THE COMPACT PART OF THE SUBSTANTIA NIGRA, IMPLYING ENVIRONMENTAL AND GENETIC FACTORS. THE OBJECTIVE OF THIS STUDY WAS TO KNOW THE GENETIC MUTATIONS IN PD RELATED TO THE DEVELOPMENT OF THE DISEASE, AS WELL AS ITS SYMPTOMS AND HEREDITY. THE STUDY IS AN INTEGRATIVE REVIEW OF THE LITERATURE, BASED ON 21 ARTICLES SURVEYED IN ELECTRONIC DATABASES, SUCH AS PUBLICMEDLINE OR PUBLISHER MEDICINE (PUBMED), GOOGLE SCHOLAR, SCIELO AND LILACS, IN THE PERIOD BETWEEN 2015 AND 2018. LITERATURES SHOW THAT, ALTHOUGH PD PRESENTS TWO PATTERNS, THE MENDELIAN INHERITANCE IS THE MOST STRIKING, ALSO INFLUENCING THE EARLY ONSET OF THE DISEASE, SINCE THE LATE DEVELOPMENT IS RELATED PREDOMINANTLY TO NON-GENETIC FACTORS OR SOME POLYMORPHIC GENES. OTHER GENES PRESENTED ARE ASSOCIATED WITH LOSS OF NEURONAL FUNCTION AND DEATH OF THESE CELLS, THUS MOTIVATING THE PATHOPHYSIOLOGICAL DEVELOPMENT OF THE DISEASE, THROUGH OXIDATIVE STRESS, APOPTOSIS, NEUROINFLAMA�AO, MITOCHONDRIAL DYSFUNCTION OR EXCITOTOXICITY.