Association of the mt-ND2 5178A/C polymorphism with Parkinson's disease

NEUROSCIENCE LETTERS

卷:587

Article

Gusdon, Aaron M.^1,2,3,4  Fang, Fang^1,2  Chen, Jing⁵  Mathews, Clayton E.⁵  Li, Wang⁶  Chu, Charleen T.³  Ding, Jian-Qing^1,2  Chen, Sheng-di^1,2 

[1] Shanghai Jiao Tong Univ, Ruijin Hosp, Sch Med, Dept Neurol, Shanghai 200025, Peoples R China

[2] Shanghai Jiao Tong Univ, Ruijin Hosp, Sch Med, Inst Neurol, Shanghai 200025, Peoples R China

[3] Univ Pittsburgh, Sch Med, Dept Pathol, Div Neuropathol, Pittsburgh, PA 15261 USA

[4] Weill Cornell Med Coll, Dept Neurol, New York, NY 10065 USA

[5] Univ Florida, Dept Pathol Immunol & Lab Med, Gainesville, FL 32610 USA

[6] Univ Pittsburgh, Sch Med, CTSI, Pittsburgh, PA 15261 USA

关键词: Parkinson's disease;    Mitochondrial DNA;    5178A;    mt-ND2;    NADH dehydrogenase;    Complex I;   

DOI  :  10.1016/j.neulet.2014.12.005

来源: Elsevier

【 摘 要 】

Mitochondria play an important role in the etiology of Parkinson's disease (PD). While mutations in the mitochondrial DNA (mtDNA) have been shown to accumulate in PD, no specific mtDNA polymorphisms have been associated with susceptibility or resistance to PD. A cytosine to adenine transversion at base pair 5178 in the mtDNA has been associated with increased longevity and resistance against a number of age related disorders and has been shown to decrease mitochondrial reactive oxygen species (ROS) production. We sought to determine whether 5178A is associated with resistance against PD in a Han Chinese population. To assess its association with PD, we genotyped 484 idiopathic PD patients and 710 control individuals for 5178C/A. Genotyping was performed using restriction fragment length polymorphism (RFLP) analysis. There was no significant association between 5178A and PD (P=0.308) when analyzing the entire population. However, sub-group analysis revealed that in males the frequency of 5178A was significantly lower in PD patients (27.7% in controls vs 20.0% in PD patients, P=0.027). Stratification of the population by age showed that this trend held across age groups but only reached statistical significance in males aged 60-70 (29.1% in controls vs 14.05 in PD patients, P= 0.011).In conclusion, we demonstrated that the frequency of 5178A was significantly decreased in male PD patients in a Han Chinese population. This polymorphism may be associated with resistance against the development of PD when in combination with loci on the Y chromosome. (C) 2014 Elsevier Ireland Ltd. All rights reserved.

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