AbstractThe activity of human pheny

Abstract

The activity of human phenylethanolamine N-methyltransferase (PNMT) is reduced in the neurons of those cells in many subcortical areas of the brain that are known to undergo neurodegeneration in Alzheimer disease (AD). Others have reported that PNMT is decreased in brains of persons with AD and that the decrease in enzymatic activity is due to a reduced amount of the enzyme protein. We have previously described two polymorphisms, G-353A and G-148A, in the promoter region of the gene coding for PNMT. These markers were tested for their association with the occurrence of sporadic AD. Genotyping of 131 necropsy confirmed AD cases, and 947 adult nondemented controls were completed. We observed a significant association between both of the PNMT gene polymorphisms and early-onset AD (EOAD) (P ≤ 0.007), but not in late-onset AD (LOAD). These data suggest that genetic variation in the promoter of the PNMT gene is associated with increased susceptibility to the sporadic form of EOAD. © 2001 Wiley-Liss, Inc.

Results (Indonesian) 1:

AbstrakAktivitas manusia phenylethanolamine N-methyltransferase (PNMT) berkurang di neuron dari sel-sel di banyak daerah yang subkortikal otak yang dikenal untuk menjalani neurodegeneration di penyakit Alzheimer (AD). Lain telah melaporkan bahwa PNMT menurun di otak orang dengan AD dan bahwa penurunan aktivitas enzim adalah karena mengurangi jumlah protein enzim. Kami sebelumnya telah menggambarkan dua polimorfisme, G-353A dan G-148A, di wilayah promotor gen pengkodean untuk PNMT. Penanda ini diuji untuk asosiasi dengan terjadinya sporadis iklan. Genotipe 131 necropsy AD kasus yang dikonfirmasi, dan kontrol nondemented dewasa 947 diselesaikan. Kami mengamati hubungan yang signifikan antara keduanya Polimorfisme gen PNMT dan awal-awal iklan (EOAD) (P ≤ 0,007), tetapi tidak dalam iklan onset terlambat (LOAD). Data ini menunjukkan bahwa variasi genetik di promotor gen PNMT dikaitkan dengan peningkatan kerentanan terhadap bentuk sporadis EOAD. © 2001 wiley-Liss, Inc