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Gene expression study on peripheral blood identifies progranulin mutations.

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.

SUBMITTER: Coppola G

PROVIDER: S-EPMC2773201 | biostudies-literature | 2008 Jul

REPOSITORIES: biostudies-literature

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Gene expression study on peripheral blood identifies progranulin mutations.

Coppola Giovanni G Karydas Anna A Rademakers Rosa R Wang Qing Q Baker Matt M Hutton Mike M Miller Bruce L BL Geschwind Daniel H DH

Annals of neurology 20080701 1

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; ...[more]

PMID: 18551524

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