دانلود مقاله : Increased incidence of Parkinsonism among Chinese with b-glucosidase mutation in central Taiwan 2013
دانلود مقاله :
Increased incidence of Parkinsonism among Chinese with b-glucosidase mutation in central Taiwan 2013
نویسندگان :
Cheng-Chun Lee a,b,h, Chon-Haw Tsai b,c,h, Lei Wana,d, Yuhsin Tsai d, Ying-Ju Lin a,d, Wen-Fu Wangf, Chang-Hai Tsai b, Wei- ong Lin a,e,*, Fuu-Jen Tsai 2013
فرمت:pdf
چکیده :
Background: Parkinson’s disease (PD) is characterized by progressive neuronal cell loss and
decline in movement. Recently, much attention has been focused on the dopaminergic
neurotoxicity, which causes neurogeneration in the nervous system, thus implicating
dysfunction in predisposition to PD pathogenesis. b-glucosidase (GBA), the enzyme deficient
in Gaucher’s disease, has been cited as linked with Parkinson’s disease. We investigated
whether GBA mutation is associated with PD patients in middle Taiwan.
Methods: GBA mutation was detected by polymerase chain reaction and sequencing in 148
patients with PD and 120 normal controls.
Results: The results revealed a significant difference between PD patients and normal
controls in GBA mutation and a statistic correlation between GBA mutation L444P and PD
formation. It could be concluded that patients who carry the T/C of GBA mutation, L444P,
have a higher risk of developing PD in Chinese patients in middle Taiwan.