Gene expression study on peripheral blood identifies progranulin mutations

@article{citeulike:2895024, 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.}, address = {Department of Neurology, Program in Neurogenetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles; Department of Neurology, Memory and Aging Center, University of California, San Francisco, San Francisco, CA; Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL}, author = {Coppola, Giovanni and Karydas, Anna and Rademakers, Rosa and Wang, Qing and Baker, Matt and Hutton, Mike and Miller, Bruce L. and Geschwind, Daniel H. }, citeulike-article-id = {2895024}, doi = {10.1002/ana.21397}, journal = {Annals of Neurology}, keywords = {progranulin}, number = {9999}, pages = {NA+}, posted-at = {2008-06-14 21:30:05}, priority = {4}, title = {Gene expression study on peripheral blood identifies progranulin mutations}, url = {http://dx.doi.org/10.1002/ana.21397}, volume = {9999}, year = {2008} }

TY - JOUR ID - citeulike:2895024 L3 - citeulike-article-id:2895024 TI - Gene expression study on peripheral blood identifies progranulin mutations JF - Annals of Neurology VL - 9999 IS - 9999 SP - NA AD - Department of Neurology, Program in Neurogenetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles; Department of Neurology, Memory and Aging Center, University of California, San Francisco, San Francisco, CA; Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL N2 - 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. KW - progranulin AU - Coppola, Giovanni AU - Karydas, Anna AU - Rademakers, Rosa AU - Wang, Qing AU - Baker, Matt AU - Hutton, Mike AU - Miller, Bruce AU - Geschwind, Daniel PY - 2008/// UR - http://dx.doi.org/10.1002/ana.21397 ER -