title: G/A polymorphism in intronic sequence affects the processing of MAO-B gene in patients with Parkinson disease.
abstract: Monoamine oxidase B (MAO-B) plays an important role in the metabolism of neuroactive and vasoactive amines in the central nervous system and peripheral tissues. Increased levels of MAO-B mRNA and enzymatic activity have been reported in platelets from patients with Parkinson's and Alzheimer's diseases, however the triggers of enhanced mRNA levels are unknown. Our results demonstrate for the first time that G/A dimorphism in intron 13 sequence creates splicing enhancer thus stimulating intron 13 removal efficiency. The increased MAO-B protein levels might serve as a surrogate marker for - Parkinson disease.
authors.affiliation: Department of Immunology and Cell Biology, Vilnius University, Institute of Biotechnology, LT-02241 Vilnius, Lithuania.
authors.forename: Egle
authors.initials: E
authors.lastname: Jakubauskiene
authors.forename: Valda
authors.initials: V
authors.lastname: Janaviciute
authors.forename: Inga
authors.initials: I
authors.lastname: Peciuliene
authors.forename: Peter
authors.initials: P
authors.lastname: Söderkvist
authors.forename: Arvydas
authors.initials: A
authors.lastname: Kanopka
mesh_terms: D000483:Alleles; D015415:Biomarkers / Q000097:blood / Q000378:metabolism; D001792:Blood Platelets / Q000378:metabolism; D006801:Humans; D007438:Introns / Q000235:genetics*; D008995:Monoamine Oxidase / Q000097:blood / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012322:RNA Precursors / Q000235:genetics; D012326:RNA Splicing / Q000235:genetics*
chemical_list: D015415:Biomarkers; D012322:RNA Precursors; D008995:Monoamine Oxidase