Abstract
SummaryAimsWe aimed to explore effects of bone marrow stromal cell antigen‐1 (BST1) rs4698412 allelic variant on brain activation and associative clinical symptoms in Parkinson’s disease (PD).MethodsA total of 49 PD patients and 47 healthy control (HC) subjects were recruited for clinical evaluations, blood samples collection for genotypes, and resting‐state functional MRI (rs‐fMRI) scans. Based on BST1 rs4698412 allelic variant (G → A), participants were further divided into 18 PD‐GG, 31 PD‐GA/AA, 20 HC‐GG, and 27 HC‐GA/AA carriers, which respectively indicated subjects carrying ancestral or risk allele in that locus in PD or HC. Two‐way analysis of covariance (ANCOVA) was applied to investigate main effects and interactions between PD and BST1 rs4698412 allelic variant on brain function via amplitude of low‐frequency fluctuations (ALFF). Spearman’s correlations were then utilized to detect associations between interactive brain regions and clinical symptoms.ResultsCompared to HC subjects, PD patients exhibited increased ALFF values in left cerebellum_8 and cerebellum_9. Significant interaction was in right lingual gyrus, where there were the lowest ALFF values and ALFF values were only negatively associated with Timed Up and Go (TUG) test time in PD‐GA/AA subgroup.ConclusionBST1 rs4698412‐modulated lingual gyrus functional alterations could be related to gait and balance dysfunction in PD.
Highlights
| INTRODUCTIONParkinson’s disease (PD), a progressive neurodegenerative disorder, is attributed to degeneration of dopamine (DA) neurons in the nigrostriatal pathway and the underlying pathological mechanism is still unknown.[1,2] Mitochondrial dysfunction, oxidative stress, and inflammation were implicated in PD pathogenesis potentially,[3,4,5] and in sporadic PD these processes are induced by nongenetic factors including environmental risk factors, probably in interaction with susceptibility genes.[4,6] Associated genes underlying susceptibility to PD have received increasing attention recently
Mitochondrial dysfunction, oxidative stress, and inflammation were implicated in Parkinson’s disease (PD) pathogenesis potentially,[3,4,5] and in sporadic PD these processes are induced by nongenetic factors including environmental risk factors, probably in interaction with susceptibility genes.[4,6]
All participants had given their informed consent before the study began, which was approved by the ethics committee of the First Affiliated Hospital of Nanjing Medical University
Summary
Parkinson’s disease (PD), a progressive neurodegenerative disorder, is attributed to degeneration of dopamine (DA) neurons in the nigrostriatal pathway and the underlying pathological mechanism is still unknown.[1,2] Mitochondrial dysfunction, oxidative stress, and inflammation were implicated in PD pathogenesis potentially,[3,4,5] and in sporadic PD these processes are induced by nongenetic factors including environmental risk factors, probably in interaction with susceptibility genes.[4,6] Associated genes underlying susceptibility to PD have received increasing attention recently. A study in Chinese population manifested the association between BST1 rs4698412 and PD.[15] Taken together, these results prompted the potential role of BST1 rs4698412 allele in the development of PD. These studies indicated little or no information regarding the association between BST1 rs4698412 allelic variant and clinical features, especially about how to mediate neural function or brain deficits in the pathogenesis of PD. In order to identify the gene‐brain‐behavior relationships, we investigated the underlying regulations of BST1 rs4698412 allelic variant in the PD progression by examining ALFF signals along with the correlations between BST1 rs4698412‐modulated brain alterations and clinical symptoms
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