Specific splice variants are associated with Parkinson's disease

Jose A. Santiago; Clemens R. Scherzer; Judith A. Potashkin; Bradley T. Hyman; Adrian J. Ivinson; Ana Trisini-Lipsanopoulos; Kaltra Dhima; Stephen Bayer; Kaitlin C. Lockhart; Thomas Yi; Zhixiang Liao; Ashley N. Hoesing; Karen Duong; Sarah Roderick; Lewis R. Sudarsky; Michael T. Hayes; Reisa Sperling; John H. Growdon; Michael A. Schwarzschild; Albert Y. Hung; Alice W. Flaherty; Deborah Blacker; Anne Marie Wills; U. Shivraj Sohur; Vivek K. Unni; Nicte I. Mejia; Anand Viswanathan; Stephen N. Gomperts; Vikram Khurana; Mark W. Albers; Rebecca K. Rudel; Joseph J. Locascio; Dennis J. Selkoe; Michael G. Schlossmacher; Alberto Ascherio

doi:10.1002/mds.25635

Specific splice variants are associated with Parkinson's disease

Jose A. Santiago, Clemens R. Scherzer, Judith A. Potashkin, Bradley T. Hyman, Adrian J. Ivinson, Ana Trisini-Lipsanopoulos, Kaltra Dhima, Stephen Bayer, Kaitlin C. Lockhart, Thomas Yi, Zhixiang Liao, Ashley N. Hoesing, Karen Duong, Sarah Roderick, Lewis R. Sudarsky, Michael T. Hayes, Reisa Sperling, John H. Growdon, Michael A. Schwarzschild, Albert Y. HungAlice W. Flaherty, Deborah Blacker, Anne Marie Wills, U. Shivraj Sohur, Vivek K. Unni, Nicte I. Mejia, Anand Viswanathan, Stephen N. Gomperts, Vikram Khurana, Mark W. Albers, Rebecca K. Rudel, Joseph J. Locascio, Dennis J. Selkoe, Michael G. Schlossmacher, Alberto Ascherio

Research output: Contribution to journal › Article › peer-review

19 Scopus citations

Abstract

Background: Diagnosis of Parkinson's disease (PD) currently relies on assessment of motor symptoms. Recently, sensitive, specific, and readily available splice variant-specific biomarkers were identified in peripheral blood from participants in the Diagnostic and Prognostic Biomarkers in Parkinson Disease study. Methods: Here we test for an association between candidate splice variant biomarkers and PD in blood of an independent population of cases and controls nested in the Harvard NeuroDiscovery Center Biomarker Study. Results: Expression of 7 out of 13 candidate biomarkers was dysregulated in whole cellular blood of patients with PD. Conclusions: These results support the view that differential expression of a subset of splice-variant markers in blood is associated with PD. Further evaluation in untreated, de novo patients and at-risk subjects is warranted.

Original language	English (US)
Pages (from-to)	1724-1727
Number of pages	4
Journal	Movement Disorders
Volume	28
Issue number	12
DOIs	https://doi.org/10.1002/mds.25635
State	Published - Oct 2013
Externally published	Yes

Keywords

Biomarker
Gene expression
Neurodegeneration
Parkinson's disease
Splicing

ASJC Scopus subject areas

Neurology
Clinical Neurology

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Santiago, J. A., Scherzer, C. R., Potashkin, J. A., Hyman, B. T., Ivinson, A. J., Trisini-Lipsanopoulos, A., Dhima, K., Bayer, S., Lockhart, K. C., Yi, T., Liao, Z., Hoesing, A. N., Duong, K., Roderick, S., Sudarsky, L. R., Hayes, M. T., Sperling, R., Growdon, J. H., Schwarzschild, M. A., ... Ascherio, A. (2013). Specific splice variants are associated with Parkinson's disease. Movement Disorders, 28(12), 1724-1727. https://doi.org/10.1002/mds.25635

Santiago, JA, Scherzer, CR, Potashkin, JA, Hyman, BT, Ivinson, AJ, Trisini-Lipsanopoulos, A, Dhima, K, Bayer, S, Lockhart, KC, Yi, T, Liao, Z, Hoesing, AN, Duong, K, Roderick, S, Sudarsky, LR, Hayes, MT, Sperling, R, Growdon, JH, Schwarzschild, MA, Hung, AY, Flaherty, AW, Blacker, D, Wills, AM, Sohur, US, Unni, VK, Mejia, NI, Viswanathan, A, Gomperts, SN, Khurana, V, Albers, MW, Rudel, RK, Locascio, JJ, Selkoe, DJ, Schlossmacher, MG & Ascherio, A 2013, 'Specific splice variants are associated with Parkinson's disease', Movement Disorders, vol. 28, no. 12, pp. 1724-1727. https://doi.org/10.1002/mds.25635

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title = "Specific splice variants are associated with Parkinson's disease",

abstract = "Background: Diagnosis of Parkinson's disease (PD) currently relies on assessment of motor symptoms. Recently, sensitive, specific, and readily available splice variant-specific biomarkers were identified in peripheral blood from participants in the Diagnostic and Prognostic Biomarkers in Parkinson Disease study. Methods: Here we test for an association between candidate splice variant biomarkers and PD in blood of an independent population of cases and controls nested in the Harvard NeuroDiscovery Center Biomarker Study. Results: Expression of 7 out of 13 candidate biomarkers was dysregulated in whole cellular blood of patients with PD. Conclusions: These results support the view that differential expression of a subset of splice-variant markers in blood is associated with PD. Further evaluation in untreated, de novo patients and at-risk subjects is warranted.",

keywords = "Biomarker, Gene expression, Neurodegeneration, Parkinson's disease, Splicing",

author = "Santiago, {Jose A.} and Scherzer, {Clemens R.} and Potashkin, {Judith A.} and Hyman, {Bradley T.} and Ivinson, {Adrian J.} and Ana Trisini-Lipsanopoulos and Kaltra Dhima and Stephen Bayer and Lockhart, {Kaitlin C.} and Thomas Yi and Zhixiang Liao and Hoesing, {Ashley N.} and Karen Duong and Sarah Roderick and Sudarsky, {Lewis R.} and Hayes, {Michael T.} and Reisa Sperling and Growdon, {John H.} and Schwarzschild, {Michael A.} and Hung, {Albert Y.} and Flaherty, {Alice W.} and Deborah Blacker and Wills, {Anne Marie} and Sohur, {U. Shivraj} and Unni, {Vivek K.} and Mejia, {Nicte I.} and Anand Viswanathan and Gomperts, {Stephen N.} and Vikram Khurana and Albers, {Mark W.} and Rudel, {Rebecca K.} and Locascio, {Joseph J.} and Selkoe, {Dennis J.} and Schlossmacher, {Michael G.} and Alberto Ascherio",

year = "2013",

month = oct,

doi = "10.1002/mds.25635",

language = "English (US)",

volume = "28",

pages = "1724--1727",

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T1 - Specific splice variants are associated with Parkinson's disease

AU - Santiago, Jose A.

AU - Scherzer, Clemens R.

AU - Potashkin, Judith A.

AU - Hyman, Bradley T.

AU - Ivinson, Adrian J.

AU - Trisini-Lipsanopoulos, Ana

AU - Dhima, Kaltra

AU - Bayer, Stephen

AU - Lockhart, Kaitlin C.

AU - Yi, Thomas

AU - Liao, Zhixiang

AU - Hoesing, Ashley N.

AU - Duong, Karen

AU - Roderick, Sarah

AU - Sudarsky, Lewis R.

AU - Hayes, Michael T.

AU - Sperling, Reisa

AU - Growdon, John H.

AU - Schwarzschild, Michael A.

AU - Hung, Albert Y.

AU - Flaherty, Alice W.

AU - Blacker, Deborah

AU - Wills, Anne Marie

AU - Sohur, U. Shivraj

AU - Unni, Vivek K.

AU - Mejia, Nicte I.

AU - Viswanathan, Anand

AU - Gomperts, Stephen N.

AU - Khurana, Vikram

AU - Albers, Mark W.

AU - Rudel, Rebecca K.

AU - Locascio, Joseph J.

AU - Selkoe, Dennis J.

AU - Schlossmacher, Michael G.

AU - Ascherio, Alberto

PY - 2013/10

Y1 - 2013/10

N2 - Background: Diagnosis of Parkinson's disease (PD) currently relies on assessment of motor symptoms. Recently, sensitive, specific, and readily available splice variant-specific biomarkers were identified in peripheral blood from participants in the Diagnostic and Prognostic Biomarkers in Parkinson Disease study. Methods: Here we test for an association between candidate splice variant biomarkers and PD in blood of an independent population of cases and controls nested in the Harvard NeuroDiscovery Center Biomarker Study. Results: Expression of 7 out of 13 candidate biomarkers was dysregulated in whole cellular blood of patients with PD. Conclusions: These results support the view that differential expression of a subset of splice-variant markers in blood is associated with PD. Further evaluation in untreated, de novo patients and at-risk subjects is warranted.

AB - Background: Diagnosis of Parkinson's disease (PD) currently relies on assessment of motor symptoms. Recently, sensitive, specific, and readily available splice variant-specific biomarkers were identified in peripheral blood from participants in the Diagnostic and Prognostic Biomarkers in Parkinson Disease study. Methods: Here we test for an association between candidate splice variant biomarkers and PD in blood of an independent population of cases and controls nested in the Harvard NeuroDiscovery Center Biomarker Study. Results: Expression of 7 out of 13 candidate biomarkers was dysregulated in whole cellular blood of patients with PD. Conclusions: These results support the view that differential expression of a subset of splice-variant markers in blood is associated with PD. Further evaluation in untreated, de novo patients and at-risk subjects is warranted.

KW - Biomarker

KW - Gene expression

KW - Neurodegeneration

KW - Parkinson's disease

KW - Splicing

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SP - 1724

EP - 1727

JO - Movement Disorders

JF - Movement Disorders

IS - 12

ER -

Specific splice variants are associated with Parkinson's disease

Abstract

Keywords

ASJC Scopus subject areas

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