Gene expression study on peripheral blood identifies progranulin mutations
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 followi...
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| Published in | Annals of neurology Vol. 64; no. 1; pp. 92 - 96 |
|---|---|
| Main Authors | , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Hoboken
Wiley Subscription Services, Inc., A Wiley Company
01.07.2008
Willey-Liss |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0364-5134 1531-8249 1531-8249 |
| DOI | 10.1002/ana.21397 |
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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. Ann Neurol 2008. |
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| AbstractList | 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. 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. 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. 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.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. 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. |
| Author | Rademakers, Rosa Coppola, Giovanni Hutton, Mike Geschwind, Daniel H. Miller, Bruce L. Karydas, Anna Wang, Qing Baker, Matt |
| AuthorAffiliation | 1 Department of Neurology, Program in Neurogenetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles 3 Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 2 Department of Neurology, Memory and Aging Center, University of California, San Francisco, San Francisco, CA |
| AuthorAffiliation_xml | – name: 2 Department of Neurology, Memory and Aging Center, University of California, San Francisco, San Francisco, CA – name: 1 Department of Neurology, Program in Neurogenetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles – name: 3 Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL |
| Author_xml | – sequence: 1 givenname: Giovanni surname: Coppola fullname: Coppola, Giovanni organization: Department of Neurology, Program in Neurogenetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles – sequence: 2 givenname: Anna surname: Karydas fullname: Karydas, Anna organization: Department of Neurology, Memory and Aging Center, University of California, San Francisco, San Francisco, CA – sequence: 3 givenname: Rosa surname: Rademakers fullname: Rademakers, Rosa organization: Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL – sequence: 4 givenname: Qing surname: Wang fullname: Wang, Qing organization: Department of Neurology, Program in Neurogenetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles – sequence: 5 givenname: Matt surname: Baker fullname: Baker, Matt organization: Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL – sequence: 6 givenname: Mike surname: Hutton fullname: Hutton, Mike organization: Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL – sequence: 7 givenname: Bruce L. surname: Miller fullname: Miller, Bruce L. organization: Department of Neurology, Memory and Aging Center, University of California, San Francisco, San Francisco, CA – sequence: 8 givenname: Daniel H. surname: Geschwind fullname: Geschwind, Daniel H. email: dhg@ucla.edu organization: Department of Neurology, Program in Neurogenetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles |
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| Copyright | Copyright © 2008 American Neurological Association 2008 INIST-CNRS |
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| Snippet | Peripheral blood is a readily available tissue source allowing relatively noninvasive screening for a host of medical conditions. We screened total‐blood... Peripheral blood is a readily available tissue source allowing relatively noninvasive screening for a host of medical conditions. We screened total-blood... |
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| SubjectTerms | Adult Aged Alzheimer Disease - blood Alzheimer Disease - diagnosis Alzheimer Disease - genetics Biological and medical sciences Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Dementia - blood Dementia - diagnosis Dementia - genetics DNA Mutational Analysis 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 Medical sciences Middle Aged Mutation - genetics Neurodegenerative Diseases - blood Neurodegenerative Diseases - diagnosis Neurodegenerative Diseases - genetics Neurology Predictive Value of Tests Progranulins RNA, Messenger - analysis RNA, Messenger - blood |
| Title | Gene expression study on peripheral blood identifies progranulin mutations |
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