Neurons in the substantia nigra may be vulnerable to oxidant stress because (a) the metabolism of dopamine generates peroxides. which, in the presence of iron. can lead to the formation of the highly reactive hydroxyl free radical; and (b) neuromelanin within nigral neurons can bind metals such as i
Hereditary variations in monoamine oxidase as a risk factor for Parkinson's disease
β Scribed by Gokhan S. Hotamisligil; A. Sule Girmen; J. Stephen Fink; Elizabeth Tivol; Christo Shalish; James Trofatter; John Baenziger; Shirley Diamond; Charles Markham; Jack Sullivan; John Growdon; Xandra O. Breakefield
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 655 KB
- Volume
- 9
- Category
- Article
- ISSN
- 0885-3185
No coin nor oath required. For personal study only.
β¦ Synopsis
Abstract
Parkinson's disease (PD) is a common neurodegenerative disorder caused by loss of dopaminergic neurons in the brainstem. Recent studies suggest that several genes may have a role in determining individual susceptibility to this disease, and the degradative enzyme monoamine oxidase (MAO) has been implicated in the disease process. Wide differences in activity levels for both forms of this enzyme (MAOβA and MAOβB) exist in the human population, and levels of both are genetically determined. Here we have compared the frequency of haplotypes at the MAOA and MAOB loci on the X chromosome in 91 male patients with PD and 129 male controls. Alleles were marked using two restriction fragment length polymorphisms (RFLPs), a (GT)n repeat in the MAOA locus, and a (GT)n repeat in the MAOB locus. One particular haplotype marked by the RFLP's at MAOA was three times more frequent in patients with PD as compared with controls, and the overall distribution of these alleles was significantly different (p =0.03) between these two groups. Another MAOA haplotype was about threefold more common in controls than in patients with PD (p = 0.005). No associations were observed between individual MAOB alleles and the disease state, but the frequency distribution for all alleles was significantly different in the two populations (p = 0.046). These findings support the idea that the MAO genes may be among the herediatary factors that influence susceptibility of individuals to PD.
π SIMILAR VOLUMES
## Abstract Cigarette smoking is associated with reduced monoamine oxidase B (MAO B) activity. Polymorphisms of the __MAO B__ gene may modify the relationship between smoking and Parkinson's Disease (PD). We examined the association of MAO B intron 13 G/A polymorphism and risk of PD, and the modula
## Abstract Common genetic variants that increase the risk for Parkinson's disease may differentiate patient subgroups and influence future individualized therapeutic strategies. Herein we show evidence for __leucineβrich repeat kinase 2 (LRRK2)__ c.4883G>C (R1628P) as a risk factor in ethnic Chine