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Gene expression study on peripheral blood identifies progranulin mutations
Author(s) -
Coppola Giovanni,
Karydas Anna,
Rademakers Rosa,
Wang Qing,
Baker Matt,
Hutton Mike,
Miller Bruce L.,
Geschwind Daniel H.
Publication year - 2008
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.21397
Subject(s) - disease , gene , peripheral blood , medicine , alzheimer's disease , gene expression , whole blood , biology , pathology , genetics , immunology
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. Ann Neurol 2008.