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Found in transcription: accurate Parkinson's disease classification in peripheral blood.
J Parkinsons Dis. 2013; 3(1):19-29.JP

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 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.

Authors+Show Affiliations

DiaGenic ASA, Oslo, Norway. magdalena.karlsson@diagenic.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Evaluation Study
Journal Article
Multicenter Study
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

23938308

Citation

Karlsson, Magdalena Kauczynska, et al. "Found in Transcription: Accurate Parkinson's Disease Classification in Peripheral Blood." Journal of Parkinson's Disease, vol. 3, no. 1, 2013, pp. 19-29.
Karlsson MK, Sharma P, Aasly J, et al. Found in transcription: accurate Parkinson's disease classification in peripheral blood. J Parkinsons Dis. 2013;3(1):19-29.
Karlsson, M. K., Sharma, P., Aasly, J., Toft, M., Skogar, O., Sæbø, S., & Lönneborg, A. (2013). Found in transcription: accurate Parkinson's disease classification in peripheral blood. Journal of Parkinson's Disease, 3(1), 19-29. https://doi.org/10.3233/JPD-120159
Karlsson MK, et al. Found in Transcription: Accurate Parkinson's Disease Classification in Peripheral Blood. J Parkinsons Dis. 2013;3(1):19-29. PubMed PMID: 23938308.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Found in transcription: accurate Parkinson's disease classification in peripheral blood. AU - Karlsson,Magdalena Kauczynska, AU - Sharma,Praveen, AU - Aasly,Jan, AU - Toft,Mathias, AU - Skogar,Orjan, AU - Sæbø,Solve, AU - Lönneborg,Anders, PY - 2013/8/14/entrez PY - 2013/8/14/pubmed PY - 2014/6/18/medline SP - 19 EP - 29 JF - Journal of Parkinson's disease JO - J Parkinsons Dis VL - 3 IS - 1 N2 - 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. SN - 1877-718X UR - https://www.unboundmedicine.com/medline/citation/23938308/Found_in_transcription:_accurate_Parkinson's_disease_classification_in_peripheral_blood_ L2 - https://content.iospress.com/openurl?genre=article&amp;id=doi:10.3233/JPD-120159 DB - PRIME DP - Unbound Medicine ER -