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.
Publication types
-
Research Support, N.I.H., Extramural
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Adult
-
Aged
-
Alzheimer Disease / blood
-
Alzheimer Disease / diagnosis
-
Alzheimer Disease / genetics
-
DNA Mutational Analysis
-
Dementia / blood
-
Dementia / diagnosis
-
Dementia / genetics*
-
Down-Regulation / genetics
-
Female
-
Gene Expression*
-
Genetic Markers / genetics
-
Genetic Predisposition to Disease / genetics*
-
Genetic Testing
-
Humans
-
Intercellular Signaling Peptides and Proteins / analysis
-
Intercellular Signaling Peptides and Proteins / blood
-
Intercellular Signaling Peptides and Proteins / genetics*
-
Leukocytes / metabolism
-
Middle Aged
-
Mutation / genetics
-
Neurodegenerative Diseases / blood
-
Neurodegenerative Diseases / diagnosis
-
Neurodegenerative Diseases / genetics*
-
Predictive Value of Tests
-
Progranulins
-
RNA, Messenger / analysis
-
RNA, Messenger / blood
Substances
-
GRN protein, human
-
Genetic Markers
-
Intercellular Signaling Peptides and Proteins
-
Progranulins
-
RNA, Messenger