Gene expression study on peripheral blood identifies progranulin mutations

Giovanni Coppola, Anna Karyda, Rosa V Rademakers, Qing Wang, Matt Baker, Mike Hutton, Bruce L. Miller, Daniel H. Geschwind

Research output: Contribution to journalArticle

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Abstract

Peripheral blood is a readily available tissue source allowing relatively noninvasive screening for a host of medical conditions. We screened total-blood progranulin (PGRN) levels in 107 patients with neurodegenerative dementias and related conditions, and 36 control subjects, and report the following findings: (1) confirmation of high progranulin expression levels in peripheral blood; (2) two subjects with reduced progranulin levels and mutations in the PGRN gene confirmed by direct sequencing; and (3) greater PGRN messenger RNA levels in patients with clinical diagnosis of Alzheimer's disease. This proof-of-principle report supports the use of gene quantification as diagnostic screen for PGRN mutations and suggests a potential role for progranulin in Alzheimer's disease.

Original languageEnglish (US)
Pages (from-to)92-96
Number of pages5
JournalAnnals of Neurology
Volume64
Issue number1
DOIs
StatePublished - Jul 2008

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Gene Expression
Mutation
Alzheimer Disease
Genes
Dementia
Messenger RNA

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Coppola, G., Karyda, A., Rademakers, R. V., Wang, Q., Baker, M., Hutton, M., ... Geschwind, D. H. (2008). Gene expression study on peripheral blood identifies progranulin mutations. Annals of Neurology, 64(1), 92-96. https://doi.org/10.1002/ana.21397

Gene expression study on peripheral blood identifies progranulin mutations. / Coppola, Giovanni; Karyda, Anna; Rademakers, Rosa V; Wang, Qing; Baker, Matt; Hutton, Mike; Miller, Bruce L.; Geschwind, Daniel H.

In: Annals of Neurology, Vol. 64, No. 1, 07.2008, p. 92-96.

Research output: Contribution to journalArticle

Coppola, G, Karyda, A, Rademakers, RV, Wang, Q, Baker, M, Hutton, M, Miller, BL & Geschwind, DH 2008, 'Gene expression study on peripheral blood identifies progranulin mutations', Annals of Neurology, vol. 64, no. 1, pp. 92-96. https://doi.org/10.1002/ana.21397
Coppola, Giovanni ; Karyda, Anna ; Rademakers, Rosa V ; Wang, Qing ; Baker, Matt ; Hutton, Mike ; Miller, Bruce L. ; Geschwind, Daniel H. / Gene expression study on peripheral blood identifies progranulin mutations. In: Annals of Neurology. 2008 ; Vol. 64, No. 1. pp. 92-96.
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