Aberrant A2A receptor function in peripheral blood cells in Huntington's disease.

Katia Varani, Maria P. Abbracchio, Milena Cannella, Giuliana Cislaghi, Patrizia Giallonardo, Caterina Mariotti, Elena Cattabriga, Flaminio Cattabeni, Pier Andrea Borea, Ferdinando Squitieri, Elena Cattaneo

Research output: Contribution to journalArticle

Abstract

A2A adenosine receptors specifically found on striatal medium spiny neurons play a major role in sensory motor function and may also be involved in neuropsychiatric and neurodegenerative disorders. One hypothesis concerning Huntington's disease (HD) proposes that an imbalance of the cortico-striatal pathway, due to the mutation in the HD gene, leads to striatal vulnerability. An A2A receptor dysfunction has been previously demonstrated in striatal cells engineered to express mutant huntingtin. Here we tested whether a similar dysfunction (i.e., the binding and functional parameters of A2A adenosine receptors) is present in peripheral blood cells (platelets, lymphocytes, and neutrophils) of subjects carrying the mutant gene. This study involved 48 heterozygous and three homozygous patients compared with 58 healthy subjects. Moreover, we selected seven at-risk mutation carriers. A2A receptor density and function are substantially increased in peripheral blood cells from both patients and subjects at the presymptomatic stage. In the neutrophils of the three homozygous HD subjects receptor dysfunction was higher than in heterozygotes. These data indicate the existence of an aberrant A2A receptor phenotype in the peripheral blood cells of subjects carrying the HD mutation. Future studies will assess whether this parameter can be exploited as a peripheral biomarker of Huntington's disease.

Original languageEnglish
Pages (from-to)2148-2150
Number of pages3
JournalFASEB Journal
Volume17
Issue number14
Publication statusPublished - 2003

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Huntington Disease
Corpus Striatum
Blood Cells
Blood
Cells
Adenosine A2A Receptors
Mutation
Neutrophils
Genes
Lymphocytes
Biomarkers
Heterozygote
Platelets
Neurodegenerative Diseases
Neurons
Healthy Volunteers
Blood Platelets
Phenotype

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Varani, K., Abbracchio, M. P., Cannella, M., Cislaghi, G., Giallonardo, P., Mariotti, C., ... Cattaneo, E. (2003). Aberrant A2A receptor function in peripheral blood cells in Huntington's disease. FASEB Journal, 17(14), 2148-2150.

Aberrant A2A receptor function in peripheral blood cells in Huntington's disease. / Varani, Katia; Abbracchio, Maria P.; Cannella, Milena; Cislaghi, Giuliana; Giallonardo, Patrizia; Mariotti, Caterina; Cattabriga, Elena; Cattabeni, Flaminio; Borea, Pier Andrea; Squitieri, Ferdinando; Cattaneo, Elena.

In: FASEB Journal, Vol. 17, No. 14, 2003, p. 2148-2150.

Research output: Contribution to journalArticle

Varani, K, Abbracchio, MP, Cannella, M, Cislaghi, G, Giallonardo, P, Mariotti, C, Cattabriga, E, Cattabeni, F, Borea, PA, Squitieri, F & Cattaneo, E 2003, 'Aberrant A2A receptor function in peripheral blood cells in Huntington's disease.', FASEB Journal, vol. 17, no. 14, pp. 2148-2150.
Varani K, Abbracchio MP, Cannella M, Cislaghi G, Giallonardo P, Mariotti C et al. Aberrant A2A receptor function in peripheral blood cells in Huntington's disease. FASEB Journal. 2003;17(14):2148-2150.
Varani, Katia ; Abbracchio, Maria P. ; Cannella, Milena ; Cislaghi, Giuliana ; Giallonardo, Patrizia ; Mariotti, Caterina ; Cattabriga, Elena ; Cattabeni, Flaminio ; Borea, Pier Andrea ; Squitieri, Ferdinando ; Cattaneo, Elena. / Aberrant A2A receptor function in peripheral blood cells in Huntington's disease. In: FASEB Journal. 2003 ; Vol. 17, No. 14. pp. 2148-2150.
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