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Updated: Aug 3, 2026

The Use of Primary Human Fibroblasts for Monitoring Mitochondrial Phenotypes in the Field of Parkinson's Disease
Published on: October 3, 2012
MUL1 gene polymorphisms and Parkinson's disease risk
Reyisha Taximaimaiti1,2, Hongyan Li1
1Neurology Department of the People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, China.
Objectives:
Parkinson's disease (PD) is afflicting millions of patients worldwide, and gene therapy may be a hope for cure. Recent researches have shown that MUL1 may play a key role in PD pathogenesis, but no specific genetic variants have been identified. This study was aimed to verify the hypothesis that variants in MUL1 gene were associated with PD risk in a Chinese cohort.
Methods:
Ten single nucleotide polymorphisms of the MUL1 gene were genotyped through Sanger sequencing in a case-control study containing 100 PD patients and 100 controls matched for age and gender.
Results:
Our results showed that rs529974 in MUL1 gene was significantly associated with the risk of PD. The allele T in rs529974(+) caused an additional PD tendency (OR = 0.353, 95% CI: [0.179-0.712], P = 0.003), which was independent of gender, clinical features, and severity of PD symptom.
Conclusion:
The allele T in the rs529974(+) MUL1 gene was susceptible to PD. The present findings may provide valuable information for early diagnose of PD and individualized pharmacological therapy, but still requires large-scale studies to confirm.
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