Gene expression study on peripheral blood identifies progranulin mutations

被引：75

作者：

Coppola, Giovanni ^{[1
]}

Karyda, Anna ^{[2
]}

Rademakers, Rosa ^{[3
]}

Wang, Qing ^{[1
]}

Baker, Matt ^{[3
]}

Hutton, Mike ^{[3
]}

Miller, Bruce L. ^{[2
]}

Geschwind, Daniel H. ^{[1
]}

机构：

[1] Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA

[2] Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, San Francisco, CA 94143 USA

[3] Mayo Clin, Coll Med, Dept Neurosci, Jacksonville, FL 32224 USA

来源：

ANNALS OF NEUROLOGY | 2008年 / 64卷 / 01期

关键词：

D O I：

10.1002/ana.21397

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：92 / 96

页数：5

共 20 条

[1] Progranulin in frontotemporal lobar degeneration and neuroinflammation [J].

Ahmed, Zeshan ;

Mackenzie, Ian Ra ;

Hutton, Michael L. ;

Dickson, Dennis W. .

JOURNAL OF NEUROINFLAMMATION, 2007, 4 (1)

[2] Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17 [J].

Baker, Matt ;

Mackenzie, Ian R. ;

Pickering-Brown, Stuart M. ;

Gass, Jennifer ;

Rademakers, Rosa ;

Lindholm, Caroline ;

Snowden, Julie ;

Adamson, Jennifer ;

Sadovnick, A. Dessa ;

Rollinson, Sara ;

Cannon, Ashley ;

Dwosh, Emily ;

Neary, David ;

Melquist, Stacey ;

Richardson, Anna ;

Dickson, Dennis ;

Berger, Zdenek ;

Eriksen, Jason ;

Robinson, Todd ;

Zehr, Cynthia ;

Dickey, Chad A. ;

Crook, Richard ;

McGowan, Eileen ;

Mann, David ;

Boeve, Bradley ;

Feldman, Howard ;

Hutton, Mike .

NATURE, 2006, 442 (7105) :916-919

[3] THE COMPLEMENTARY DEOXYRIBONUCLEIC-ACID SEQUENCE, TISSUE DISTRIBUTION, AND CELLULAR-LOCALIZATION OF THE RAT GRANULIN PRECURSOR [J].

BHANDARI, V ;

GIAID, A ;

BATEMAN, A .

ENDOCRINOLOGY, 1993, 133 (06) :2682-2689

[4] Epidemioloo and genetics of frontotemporal dementia/Pick's disease [J].

Bird, T ;

Knopman, D ;

VanSwieten, J ;

Rosso, S ;

Feldman, H ;

Tanabe, H ;

Graff-Raford, N ;

Geschwind, D ;

Verpillat, P ;

Hutton, M .

ANNALS OF NEUROLOGY, 2003, 54 :S29-S31

[5]

Coppola G, 2007, NEUROLOGY, V68, pA350

[6] Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21 [J].

Cruts, Marc ;

Gijselinck, Ilse ;

van der Zee, Julie ;

Engelborghs, Sebastiaan ;

Wils, Hans ;

Pirici, Daniel ;

Rademakers, Rosa ;

Vandenberghe, Rik ;

Dermaut, Bart ;

Martin, Jean-Jacques ;

van Duijn, Cornelia ;

Peeters, Karin ;

Sciot, Raf ;

Santens, Patrick ;

De Pooter, Tim ;

Mattheijssens, Maria ;

Van den Broeck, Marleen ;

Cuijt, Ivy ;

Vennekens, Krist'l ;

De Deyn, Peter P. ;

Kumar-Singh, Samir ;

Van Broeckhoven, Christine .

NATURE, 2006, 442 (7105) :920-924

[7] Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration [J].

Gass, Jennifer ;

Cannon, Ashley ;

Mackenzie, Ian R. ;

Boeve, Bradley ;

Baker, Matt ;

Adamson, Jennifer ;

Crook, Richard ;

Melquist, Stacey ;

Kuntz, Karen ;

Petersen, Ron ;

Josephs, Keith ;

Pickering-Brown, Stuart M. ;

Graff-Radford, Neill ;

Uitti, Ryan ;

Dickson, Dennis ;

Wszolek, Zbigniew ;

Gonzalez, John ;

Beach, Thomas G. ;

Bigio, Eileen ;

Johnson, Nancy ;

Weintraub, Sandra ;

Mesulam, Marsel ;

White, Charles L., III ;

Woodruff, Bryan ;

Caselli, Richard ;

Hsiung, Ging-Yuek ;

Feldman, Howard ;

Knopman, Dave ;

Hutton, Mike ;

Rademakers, Rosa .

HUMAN MOLECULAR GENETICS, 2006, 15 (20) :2988-3001

[8] Bioconductor: open software development for computational biology and bioinformatics [J].

Gentleman, RC ;

Carey, VJ ;

Bates, DM ;

Bolstad, B ;

Dettling, M ;

Dudoit, S ;

Ellis, B ;

Gautier, L ;

Ge, YC ;

Gentry, J ;

Hornik, K ;

Hothorn, T ;

Huber, W ;

Iacus, S ;

Irizarry, R ;

Leisch, F ;

Li, C ;

Maechler, M ;

Rossini, AJ ;

Sawitzki, G ;

Smith, C ;

Smyth, G ;

Tierney, L ;

Yang, JYH ;

Zhang, JH .

GENOME BIOLOGY, 2004, 5 (10)

[9] DEMENTIA LACKING DISTINCTIVE HISTOLOGIC FEATURES - A COMMON NON-ALZHEIMER DEGENERATIVE DEMENTIA [J].

KNOPMAN, DS ;

MASTRI, AR ;

FREY, WH ;

SUNG, JH ;

RUSTAN, T .

NEUROLOGY, 1990, 40 (02) :251-256

[10]

Malaspina A, 2001, J NEUROCHEM, V77, P132, DOI 10.1046/j.1471-4159.2001.t01-1-00231.x

← 1 2 →