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Found in transcription : accurate Parkinson's disease classification in peripheral blood

Karlsson, Magdalena Kauczynska ; Sharma, Praveen ; Aasly, Jan ; Toft, Mathias ; Skogar, Orjan LU orcid ; Sæbø, Solve and Lönneborg, Anders (2013) In Journal of Parkinson's Disease 3(1). p.19-29
Abstract

BACKGROUND: A blood-based test for the early detection of Parkinson's disease (PD) would be an important diagnostic tool and useful for patient selection when developing novel drugs or treatments for the disease.

OBJECTIVE: Here, we aimed to identify potential biomarkers associated with PD.

METHODS: We applied gene expression profiling to the study of peripheral blood from 75 healthy control subjects and 79 PD patients at different stages of the disease. Healthy control subjects were matched for age and gender with PD subjects, and the diagnosis of patients was based on clinical evaluation by specialists in movement disorders. RNA was extracted from the blood samples and the gene expressions were measured using the Illumina... (More)

BACKGROUND: A blood-based test for the early detection of Parkinson's disease (PD) would be an important diagnostic tool and useful for patient selection when developing novel drugs or treatments for the disease.

OBJECTIVE: Here, we aimed to identify potential biomarkers associated with PD.

METHODS: We applied gene expression profiling to the study of peripheral blood from 75 healthy control subjects and 79 PD patients at different stages of the disease. Healthy control subjects were matched for age and gender with PD subjects, and the diagnosis of patients was based on clinical evaluation by specialists in movement disorders. RNA was extracted from the blood samples and the gene expressions were measured using the Illumina HumanHT-12 v4.0 Expression BeadChip.

RESULTS: Our results support previous studies that gene expression in blood may be instrumental in the search for molecular biomarkers for PD. Single cross-validation results show that PD can be correctly classified from healthy controls with an agreement of 88% to clinical diagnosis. De novo PD patients are classified with a sensitivity of 87%, which is close to what was achieved for the patients having a confirmed PD diagnosis with disease duration <5 and >5 years (93% and 88%). A double cross-validation procedure showed that using a selected set of around 650 informative genes, similar results are achieved. Functional analysis of the selected genes showed genes significantly associated to mitochondrial dysfunction, protein ubiquitination, gene expression and cell death.

CONCLUSIONS: PD affects gene expression in blood, suggesting the potential for the development of a blood-based gene expression test.

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author
; ; ; ; ; and
publishing date
type
Contribution to journal
publication status
published
keywords
Aged, Aged, 80 and over, Analysis of Variance, Biomarkers/blood, Case-Control Studies, Early Diagnosis, Female, Gene Expression Profiling/methods, Humans, Male, Microarray Analysis/methods, Middle Aged, Parkinson Disease/diagnosis, RNA/analysis, Sensitivity and Specificity, Transcription, Genetic/genetics
in
Journal of Parkinson's Disease
volume
3
issue
1
pages
19 - 29
publisher
IOS Press
external identifiers
  • scopus:84880207270
  • pmid:23938308
ISSN
1877-718X
DOI
10.3233/JPD-120159
language
English
LU publication?
no
id
725db373-caa1-4c6a-bead-ebdb491f1a34
date added to LUP
2024-05-08 15:04:14
date last changed
2024-05-14 03:05:45
@article{725db373-caa1-4c6a-bead-ebdb491f1a34,
  abstract     = {{<p>BACKGROUND: A blood-based test for the early detection of Parkinson's disease (PD) would be an important diagnostic tool and useful for patient selection when developing novel drugs or treatments for the disease.</p><p>OBJECTIVE: Here, we aimed to identify potential biomarkers associated with PD.</p><p>METHODS: We applied gene expression profiling to the study of peripheral blood from 75 healthy control subjects and 79 PD patients at different stages of the disease. Healthy control subjects were matched for age and gender with PD subjects, and the diagnosis of patients was based on clinical evaluation by specialists in movement disorders. RNA was extracted from the blood samples and the gene expressions were measured using the Illumina HumanHT-12 v4.0 Expression BeadChip.</p><p>RESULTS: Our results support previous studies that gene expression in blood may be instrumental in the search for molecular biomarkers for PD. Single cross-validation results show that PD can be correctly classified from healthy controls with an agreement of 88% to clinical diagnosis. De novo PD patients are classified with a sensitivity of 87%, which is close to what was achieved for the patients having a confirmed PD diagnosis with disease duration &lt;5 and &gt;5 years (93% and 88%). A double cross-validation procedure showed that using a selected set of around 650 informative genes, similar results are achieved. Functional analysis of the selected genes showed genes significantly associated to mitochondrial dysfunction, protein ubiquitination, gene expression and cell death.</p><p>CONCLUSIONS: PD affects gene expression in blood, suggesting the potential for the development of a blood-based gene expression test.</p>}},
  author       = {{Karlsson, Magdalena Kauczynska and Sharma, Praveen and Aasly, Jan and Toft, Mathias and Skogar, Orjan and Sæbø, Solve and Lönneborg, Anders}},
  issn         = {{1877-718X}},
  keywords     = {{Aged; Aged, 80 and over; Analysis of Variance; Biomarkers/blood; Case-Control Studies; Early Diagnosis; Female; Gene Expression Profiling/methods; Humans; Male; Microarray Analysis/methods; Middle Aged; Parkinson Disease/diagnosis; RNA/analysis; Sensitivity and Specificity; Transcription, Genetic/genetics}},
  language     = {{eng}},
  number       = {{1}},
  pages        = {{19--29}},
  publisher    = {{IOS Press}},
  series       = {{Journal of Parkinson's Disease}},
  title        = {{Found in transcription : accurate Parkinson's disease classification in peripheral blood}},
  url          = {{http://dx.doi.org/10.3233/JPD-120159}},
  doi          = {{10.3233/JPD-120159}},
  volume       = {{3}},
  year         = {{2013}},
}