scholarly journals Mitochondrial D-Loop Region Methylation and Copy Number in Peripheral Blood DNA of Parkinson’s Disease Patients

Genes ◽  
2021 ◽  
Vol 12 (5) ◽  
pp. 720
Author(s):  
Andrea Stoccoro ◽  
Adam R. Smith ◽  
Filippo Baldacci ◽  
Claudia Del Gamba ◽  
Annalisa Lo Gerfo ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Peripheral Blood ◽  
Copy Number ◽  
Mtdna Copy Number ◽  
Control Subjects ◽  
Loop Region ◽  
D Loop ◽  
Mtdna Replication ◽  
And Control

Altered mitochondrial DNA (mtDNA) methylation has been detected in several human pathologies, although little attention has been given to neurodegenerative diseases. Recently, altered methylation levels of the mitochondrial displacement loop (D-loop) region, which regulates mtDNA replication, were observed in peripheral blood cells of Alzheimer’s disease and amyotrophic lateral sclerosis patients. However, nothing is yet known about D-loop region methylation levels in peripheral blood of Parkinson’s disease (PD) patients. In the current study, we investigated D-loop methylation levels and mtDNA copy number in peripheral blood of 30 PD patients and 30 age- and sex-matched control subjects. DNA methylation analyses have been performed by means of methylation-sensitive high-resolution melting (MS-HRM) and pyrosequencing techniques, while mtDNA copy number was analyzed by quantitative PCR. MS-HRM and pyrosequencing analyses provided very similar D-loop methylation levels in PD patients and control subjects, and no differences between the two groups have been observed. Treatment with L-dopa and duration of the disease had no effect on D-loop methylation levels in PD patients. Additionally, mtDNA copy number did not differ between PD patients and control subjects. Current results suggest that D-loop methylation levels are not altered in peripheral blood of PD patients nor influenced by dopaminergic treatment.

scholarly journals Multicenter Assessment of Immunohistochemical Methods for Pathological Alpha-Synuclein in Sigmoid Colon of Autopsied Parkinson’s Disease and Control Subjects

2016 ◽  
Vol 6 (4) ◽  
pp. 761-770 ◽  
Author(s):  
Thomas G. Beach ◽  
Anne-Gaëlle Corbillé ◽  
Franck Letournel ◽  
Jeffrey H. Kordower ◽  
Thomas Kremer ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Sigmoid Colon ◽  
Alpha Synuclein ◽  
Control Subjects ◽  
Immunohistochemical Methods ◽  
And Control

scholarly journals Mitochondrial DNA structure and expression in specialized subtypes of mammalian striated muscle.

1990 ◽  
Vol 10 (11) ◽  
pp. 5671-5678 ◽  
Author(s):  
B H Annex ◽  
R S Williams
Keyword(s):  
Mitochondrial Dna ◽  
Copy Number ◽  
Striated Muscle ◽  
Dna Structure ◽  
Triplex Dna ◽  
Mtdna Copy Number ◽  
Loop Region ◽  
D Loop ◽  
Heavy Strand ◽  
Light Strand

Mitochondrial DNA (mt DNA) in cells of vertebrate organisms can assume an unusual triplex DNA structure known as the displacement loop (D loop). This triplex DNA structure forms when a partially replicated heavy strand of mtDNA (7S mtDNA) remains annealed to the light strand, displacing the native heavy strand in this region. The D-loop region contains the promoters for both heavy- and light-strand transcription as well as the origin of heavy-strand replication. However, the distribution of triplex and duplex forms of mtDNA in relation to respiratory activity of mammalian tissues has not been systematically characterized, and the functional significance of the D-loop structure is unknown. In comparisons of specialized muscle subtypes within the same species and of the same muscle subtype in different species, the relative proportion of D-loop versus duplex forms of mtDNA in striated muscle tissues of several mammalian species demonstrated marked variation, ranging from 1% in glycolytic fast skeletal fibers of the rabbit to 65% in the mouse heart. There was a consistent and direct correlation between the ratio of triplex to duplex forms of mtDNA and the capacity of these tissues for oxidative metabolism. The proportion of D-loop forms likewise correlated directly with mtDNA copy number, mtRNA abundance, and the specific activity of the mtDNA (gamma) polymerase. The D-loop form of mtDNA does not appear to be transcribed at greater efficiency than the duplex form, since the ratio of mtDNA copy number to mtRNA was unrelated to the proportion of triplex mtDNA genomes. However, tissues with a preponderance of D-loop forms tended to express greater levels of cytochrome b mRNA relative to mitochondrial rRNA transcripts, suggesting that the triplex structure may be associated with variations in partial versus full-length transcription of the heavy strand.

scholarly journals Association between CSF1 and CSF1R Polymorphisms and Parkinson’s Disease in Taiwan

2019 ◽  
Vol 8 (10) ◽  
pp. 1529 ◽  
Author(s):  
Kuo-Hsuan Chang ◽  
Yih-Ru Wu ◽  
Yi-Chun Chen ◽  
Hsiu-Chuan Wu ◽  
Chiung-Mei Chen
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Age At Onset ◽  
Genetic Associations ◽  
Age And Gender ◽  
Control Subjects ◽  
Important Pathway ◽  
And Gender ◽  
And Control ◽  
First Time

Background: CSF1/CSF1R neuroinflammatory signaling is emerging as an important pathway involved in the pathogenesis of Parkinson’s disease (PD). However, the genetic associations between CSF1/CSF1R and PD have not yet been explored. Methods: We investigated the effects of two functional genetic variants, including CSF1 rs1058885 and CSF1R rs10079250 in a cohort including 502 Taiwanese patients with PD and 511 age- and gender-matched healthy controls. Results: The CSF1 rs1058885 TT genotype was less frequent in PD patients compared with control subjects (odds ratio (OR) = 0.63, 95% confidence interval (CI): 0.43–0.92, p = 0.015). The PD patients also had a lower frequency of the CSF1 rs1058885 T allele compared with the control subjects (OR = 0.80, 95% CI: 0.67–0.96, p = 0.014). No statistically significant differences in allelic and genotypic frequencies of CSF1R rs10079250 between the PD and control subjects were found, even after stratification by age at onset and gender. Conclusion: This study reports a genetic association between CSF1 and PD for the first time.

scholarly journals The Effect of Pramipexole Therapy on Balance Disorder and Fall Risk in Parkinson’s Disease at Early Stage: Clinical and Posturographic Assessment

2012 ◽  
Vol 2012 ◽  
pp. 1-7 ◽  
Author(s):  
Sibel Güler ◽  
Levent Sinan Bir ◽  
Beyza Akdag ◽  
Fusun Ardıc
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Drug Therapy ◽  
Fall Risk ◽  
Early Stage ◽  
Postural Instability ◽  
Assessment Tools ◽  
Control Subjects ◽  
Significant Difference ◽  
And Control

The aim of this study was to determine balance problems and severity and ratio of postural instability of newly diagnosed, early stage Parkinson’s patients who did not receive any antiparkinson treatment before, to evaluate fall risk clinically and posturographically and to examine the effects of pramipexole on these signs and symptoms. Detailed posturographic assessments which involved central vestibular, visual, peripheric vestibular somatosensory field tests were applied to both patient and control subjects and fall risk was determined. There was not statistically significant difference between patients and control subjects before and after drug therapy in the assesment of fall risk in posturography and there was not any improvement with drug usage in the patient group. However, in the analysis of subsystems separately, only the involvement in central vestibular field was more severe and could appear at all positions in Parkinson’s patients comparing with the control group, and pramipexole was partially effective in improving this disorder. Central vestibular field is the subsystem that should be examined with first priority. Posturography is relatively reliable in defining fall risk and postural instability ratio in Parkinson’s disease. But it should be considered that clinical assessment tools can be more sensitive in the evaluation of balance and postural disorders and in the follow-up of the response to drug therapy.

Cerebellar Norepinephrine in Patients With Parkinson's Disease and Control Subjects

1984 ◽  
Vol 41 (6) ◽  
pp. 612-614 ◽  
Author(s):  
S. J. Kish ◽  
K. S. Shannak ◽  
A. H. Rajput ◽  
J. J. Gilbert ◽  
O. Hornykiewicz
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Control Subjects ◽  
And Control

scholarly journals Mitochondrial Biogenesis, Telomere Length and Cellular Senescence in Parkinson’s Disease and Lewy Body Dementia

2021 ◽  
Author(s):  
Muhammad Asghar ◽  
Amani Odeh ◽  
Ahmad Jouni Fattahi ◽  
Alexandra Edward Henriksson ◽  
Aurelie Miglar ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Mitochondrial Dna ◽  
Mitochondrial Dysfunction ◽  
Telomere Length ◽  
Cellular Senescence ◽  
Mitochondrial Biogenesis ◽  
Copy Number ◽  
Cellular Aging ◽  
Mtdna Copy Number

Abstract Background Progressive age is the single major risk factor for neurodegenerative diseases. Cellular aging markers during the course of Parkinson’s disease (PD) have been implicated in previous studies, however majority of these studies have investigated the association of individual cellular aging hallmarks with PD but not jointly. Method Here, we have studied the association of PD with three aging hallmarks (telomere attrition, mitochondrial dysfunction, and cellular senescence) in blood and the brain tissue. Telomere length and mitochondrial DNA ( mtDNA ) copy number was assessed by qPCR, while mitochondrial function ( PGC-1α and PGC-1β ) and expression of cyclin-dependent kinase inhibitor 2A ( CDKN2A ), cellular senescence marker was measured by RT-qPCR. Results Our results show that patients diagnosed with PD had 20% lower mitochondrial DNA copy number but 26% longer telomeres in blood compared to controls. Moreover, telomere length in blood was positively correlated with medication (Levodopa Equivalent Daily Dose). Similar results were found in brain tissue, where patients with Parkinson’s disease (PD), Parkinson dementia (PDD) and Dementia with Lewy Bodies (DLB) showed (46-95%) depleted mtDNA copy number, but (7-9%) longer telomeres compared to controls. Furthermore, when compared to controls, patients had lower mitochondrial biogenesis ( PGC-1α and PGC-1β ) and higher load of cellular senescent cells in postmortem prefrontal cortex tissue, where DLB showing the highest effect among the patient groups. Conclusion Our results show that mitochondrial dysfunction and cellular senescence but not telomere shortening is associated with PD, PDD and DLB. Our findings suggest that mitochondrial copy number and function could be used as viable biomarker in blood as an early indicator for the risk of neurodegenerative diseases.

Expression of Lewy body protein septin 4 in postmortem brain of Parkinson's disease and control subjects

2009 ◽  
Vol 24 (2) ◽  
pp. 204-210 ◽  
Author(s):  
Lina Shehadeh ◽  
Georgia Mitsi ◽  
Nikhil Adi ◽  
Nanette Bishopric ◽  
Spyridon Papapetropoulos
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Lewy Body ◽  
Postmortem Brain ◽  
Body Protein ◽  
Control Subjects ◽  
And Control

Tremor and longevity in relatives of patients with Parkinson's disease, essential tremor, and control subjects

Neurology ◽  
1995 ◽  
Vol 45 (4) ◽  
pp. 645-648 ◽  
Author(s):  
J. Jankovic ◽  
J. Beach ◽  
K. Schwartz ◽  
C. Contant
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Essential Tremor ◽  
Control Subjects ◽  
And Control
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