| BackgroundParkinson's Disease(PD)is a common progressive degenerative disease of the central nervous system in middle-aged and elderly people.Its disability and mortality are high,which seriously affects the quality of life of patients.Its pathogenesis is still not completely clear.In recent years,studies have found that mitochondrial dysfunction plays a central role in the pathogenesis of PD.Mitochondrial dysfunction can hinder the oxidative phosphorylation reaction,leading to the abnormal function of the mitochondrial electron transport chain and thus affecting the production of ATP.A large number of studies have shown that in the early stages of PD onset,abnormal mitochondrial electron transport chain function is a major pathogenic mechanism of PD.the mitochondrial cytochrome b(MT-CYB)gene is the gene that encodes the inner membrane protein of Mitochondrial Complex III,which is involved in the regulation of oxidoreductase activity,metal ion transfer and electron transport in the respiratory chain.Therefore,this study was aimed at the population in northern Henan,and carried out a study on the association between MT-CYB gene mutations and PD,and further collected demographic information,main motor symptoms,and common non-motor symptoms of PD patients,and explore the genotype-phenotype relationship of patients with MT-CYB gene mutations,providing a theoretical basis for future gene-targeted therapy.Objectives1.To analyze the relationship between MT-CYB gene and PD in northern Henan by comparing the sequence of MT-CYB gene between PD patients and physical examination population.2.To explore the clinical phenotypic characteristics of patients with MT-CYB gene mutations.MethodsIn this study,104 PD patients in outpatient and ward of the First Affiliated Hospital of Xinxiang Medical College were collected and sorted out,including demographic information,main motor symptoms and common non-motor symptoms.In addition,95 healthy persons matched with the sex and age of the case group in the same period were selected.Elbow vein blood samples of all enrolled subjects were extracted.The genome was extracted and the target fragments were obtained by PCR amplification.The PCR products were sent to the company for sequencing.The sequencing results were compared by using DNAMAN8 software,and the sequencing peaks were read by using Chromas software.The MT-CYB genotypes of PD patients and the physical examination population were compared.The mutation rate was calculated.All data were statistically analyzed and collated by using SPSS 25.0 statistical software.Results(1)The allele and genotype frequencies of MT-CYB gene m.14784 T> C site,m.15043 G> A site,m.15301G> A site were statistically significant between the two groups(P <0.05).(2)m.14784 T>C mutation,m.15043 G>A mutation and m.15301 G>A mutation did not show significant differences(P > 0.05)in the demographic information including the patient's gender,age,age of onset,education level and family history compared with PD patients in the negative mutation group.(3)m.14784 T>C mutation,m.15043 G>A mutation,and m.15301 G>A mutation did not show significant differences(P > 0.05)in the major motion symptoms of PD,such as retardation,tremor,rigidity,postural instability,and frozen gait,when compared with PD patients in the negative mutation group.Through more accurate evaluation of UPDRS III and H&Y staging of PD patients,which are relatively important and objective motor function scale for PD,the results showed that m.14784 T>C mutation,m.15043 G>A mutation,and m.15301 G>A mutation did not show significant differences(P > 0.05)in UPDRS III and H&Y stage compared with PD patients in the negative mutation group.(4)According to HAMA score,HAMD score,MMSE score,MoCA score,we can see that most PD patients have mild to moderate anxiety,depression,and cognitive dysfunction.But m.14784 T > C mutation,m.15043 G > A mutation,m.15301 G > A mutation compared with the corresponding site mutation negative groups of patients with PD,anxiety,depression and cognitive function showed no significant difference(P > 0.05).In addition,there were no significant differences(P> 0.05)in the common non-motor symptoms of PD,such as hyposmia,incontinence,constipation,hallucinations,orthostatic hypotension.Conclusions1.MT-CYB gene mutation may be involved in the occurrence of PD in northern Henan.2.The mutation sites of MT-CYB gene in PD patients in the northern Henan are m.14784 T> C,m.15043 G> A,m.15301G> A,and these mutation sites need to be verified in different races and regions.3.m.14784 T> C,m.15043 G> A,m.15301 G> A site mutations have no significant correlation with the demographic information,main motor symptoms and common nonmotor symptoms of PD patients in northern Henan. |
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