Analysis of Thr12Met and Ala1144Thr Mutations of the ATP13A2 Gene in Parkinson’s Disease Patients in Xinjiang Uygur and Han Ethnic Groups

Li, Guihua; Zhang, Zhenzhong; Xia, Huan; Yang, Xinling

doi:10.12659/msm.892821

Cited by 5 publications

(2 citation statements)

References 21 publications

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“…While in heterozygous mutations (ex. c.2236G > A/p.Ala746Thr), symptoms varied, but included basal ganglia-related bradykinesia, rigidity, and tremor (36)(37)(38)40). In general, the homozygous mutations appear more severe compared to the heterozygous mutations, but symptoms can still appear in the heterozygous state with later age of onset.…”

Section: Clinical Syndromes and Atp13a2mentioning

confidence: 99%

ATP13A2 (PARK9) and basal ganglia function

Croucher,

Fleming

2024

Front. Neurol.

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ATP13A2 is a lysosomal protein involved in polyamine transport with loss of function mutations associated with multiple neurodegenerative conditions. These include early onset Parkinson’s disease, Kufor-Rakeb Syndrome, neuronal ceroid lipofuscinosis, hereditary spastic paraplegia, and amyotrophic lateral sclerosis. While ATP13A2 mutations may result in clinical heterogeneity, the basal ganglia appear to be impacted in the majority of cases. The basal ganglia is particularly vulnerable to environmental exposures such as heavy metals, pesticides, and industrial agents which are also established risk factors for many neurodegenerative conditions. Not surprisingly then, impaired function of ATP13A2 has been linked to heavy metal toxicity including manganese, iron, and zinc. This review discusses the role of ATP13A2 in basal ganglia function and dysfunction, potential common pathological mechanisms in ATP13A2-related disorders, and how gene x environment interactions may contribute to basal ganglia dysfunction.

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Section: Clinical Syndromes and Atp13a2mentioning

confidence: 99%

ATP13A2 (PARK9) and basal ganglia function

Croucher,

Fleming

2024

Front. Neurol.

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“…Most Ughyur people live in Xinjiang Province, on the northwestern border of China. These people have a lifestyle and dietary habits different from those of Han Chinese, as well as a relatively high incidence of PD [ 14 , 15 ]. Few epidemiological studies have assessed PD in the Uyghur population.…”

Section: Introductionmentioning

confidence: 99%

Genome-Scale Expression Pattern of Long Non-Coding RNAs in Chinese Uyghur Patients with Parkinson’s Disease

Wang

Gao

et al. 2020

Med Sci Monit

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Background Long non-coding RNAs (lncRNAs) are transcripts thought to regulate gene expression at the post-transcriptional level. Some lncRNAs are associated with Parkinson’s disease (PD) and participate in pathological processes of PD. The incidence of PD is relatively high in members of the Uyghur minority living in Xingjiang province of China. This study measured the expression of lncRNAs in the peripheral blood cells of Chinese Uyghur individuals with and without PD and analyzed the possible function of these lncRNAs in the development of PD. Material/Methods Peripheral blood samples were collected from 55 Uyghur patients with PD and 55 healthy volunteers. Total RNA was extracted, and the levels of expression of whole-genome lncRNAs and mRNAs in 10 samples (5 PD and 5 controls) were determined by microarray method. The expression levels of lncRNAs in all 100 subjects were determined by qRT-PCR. The lncRNA expression profiles of PD patients were determined based on lncRNA microarray chip analysis, and differentially expressed lncRNAs were identified. The results of chip analysis were confirmed in a large clinical cohort. Results Comparison of subjects with and without PD identified 32 significantly up-regulated and 18 significantly down-regulated lncRNAs in the PD group. GO analysis showed that mRNAs encoding proteins involved in the regulation of biological processes were differentially expressed, with the inflammatory immune response being the most significantly related pathway. Conclusions The expression of lncRNAs in peripheral blood differed significantly in PD patients and controls. These differentially expressed lncRNAs may play a role in the development of PD.

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Neuropsychiatric Symptoms and Cognitive Impairment in Chinese Patients with Parkinson’s Disease in Han and Hui Ethnicity

Yao

Zhang

et al. 2019

CURR MED SCI

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Analysis of Thr12Met and Ala1144Thr Mutations of the ATP13A2 Gene in Parkinson’s Disease Patients in Xinjiang Uygur and Han Ethnic Groups

Cited by 5 publications

References 21 publications

ATP13A2 (PARK9) and basal ganglia function

ATP13A2 (PARK9) and basal ganglia function

Genome-Scale Expression Pattern of Long Non-Coding RNAs in Chinese Uyghur Patients with Parkinson’s Disease

Neuropsychiatric Symptoms and Cognitive Impairment in Chinese Patients with Parkinson’s Disease in Han and Hui Ethnicity

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