Molecular pathology of age-related macular degeneration

被引：445

作者：

Ding, Xiaoyan ^{[1
,2
]}

Patel, Mrinali ^{[1
,3
]}

Chan, Chi-Chao ^{[1
]}

机构：

[1] NEI, Immunopathol Sect, Immunol Lab, Bethesda, MD 20892 USA

[2] Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, Guangzhou 510060, Guangdong, Peoples R China

[3] Howard Hughes Med Inst, Chevy Chase, MD USA

来源：

PROGRESS IN RETINAL AND EYE RESEARCH | 2009年 / 28卷 / 01期

关键词：

Age-related macular degeneration; Inflammation; Single nucleotide polymorphism; Genetics Retinal pigment epithelium; Retinal photoreceptors; Drusen; Vascular endothelial growth factor; Bruch's membrane; Molecular pathology; COMPLEMENT FACTOR-H; RETINAL-PIGMENT EPITHELIUM; APOLIPOPROTEIN-E GENE; CHOROIDAL NEOVASCULAR MEMBRANES; HTRA1 PROMOTER POLYMORPHISM; MITOCHONDRIAL-DNA DAMAGE; GROWTH-FACTOR-BETA; DIETARY-FAT; ANGIOMATOUS PROLIFERATION; STARGARDT-DISEASE;

D O I：

10.1016/j.preteyeres.2008.10.001

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Age-related macular degeneration (AMD) is a leading cause of irreversible blindness in the world. Although the etiology and pathogenesis of AMD remain largely unclear, a complex interaction of genetic and environmental factors is thought to exist. AMD pathology is characterized by degeneration involving the retinal photoreceptors, retinal pigment epithelium, and Bruch's membrane, as well as, in some cases, alterations in choroidal capillaries. Recent research on the genetic and molecular underpinnings of AMD brings to light several basic molecular pathways and pathophysiological processes that might mediate AMD risk, progression, and/or response to therapy. This review summarizes, in detail, the molecular pathological findings in both humans and animal models, including genetic variations in CFH, CX3CR1, and ARMS2/HtrA1, as well as the role of numerous molecules implicated in inflammation, apoptosis, cholesterol trafficking, angiogenesis, and oxidative stress. Published by Elsevier Ltd.

引用

页码：1 / 18

页数：18

共 208 条

[31] The HtrA family of proteases: Implications for protein composition and cell fate [J].

Clausen, T ;

Southan, C ;

Ehrmann, M .

MOLECULAR CELL, 2002, 10 (03) :443-455

[32] Complement factor H deficiency in aged mice causes retinal abnormalities and visual dysfunction [J].

Coffey, Peter J. ;

Gias, Carlos ;

McDermott, Caroline J. ;

Lundh, Peter ;

Pickering, Matthew C. ;

Sethi, Charanjit ;

Bird, Alan ;

Fitzke, Fred W. ;

Maass, Annelie ;

Chen, Li Li ;

Holder, Graham E. ;

Luthert, Philip J. ;

Salt, Thomas E. ;

Moss, Stephen E. ;

Greenwood, John .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2007, 104 (42) :16651-16656

[33] Age-related macular degeneration [J].

Coleman, Hanna R. ;

Chan, Chi-Chao ;

Ferris, Frederick L., III ;

Chew, Emily Y. .

LANCET, 2008, 372 (9652) :1835-1845

[34] Gene cloning, RNA distribution, and functional expression of mCX3CR1, a mouse chemotactic receptor for the CX3C chemokine fractalkine [J].

Combadiere, C ;

Gao, JL ;

Tiffany, HL ;

Murphy, PM .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1998, 253 (03) :728-732

[35] CX3CR1-dependent subretinal microglia cell accumulation is associated with cardinal features of age-related macular degeneration [J].

Combadiere, Christophe ;

Feumi, Charles ;

Raoul, William ;

Keller, Nicole ;

Rodero, Mathieu ;

Pezard, Adeline ;

Lavalette, Sophie ;

Houssier, Marianne ;

Jonet, Laurent ;

Picard, Emilie ;

Debre, Patrice ;

Sirinyan, Mirna ;

Deterre, Philippe ;

Ferroukhi, Tania ;

Cohen, Salomon-Yves ;

Chauvaud, Dominique ;

Jeanny, Jean-Claude ;

Chemtob, Sylvain ;

Behar-Cohen, Francine ;

Sennlaub, Florian .

JOURNAL OF CLINICAL INVESTIGATION, 2007, 117 (10) :2920-2928

[36] CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy:: AREDS and CHS cohorts and meta-analyses [J].

Conley, Yvette P. ;

Jakobsdottir, Johanna ;

Mah, Tammy ;

Weeks, Daniel E. ;

Klein, Ronald ;

Kuller, Lewis ;

Ferrell, Robert E. ;

Gorin, Michael B. .

HUMAN MOLECULAR GENETICS, 2006, 15 (21) :3206-3218

[37] Drusen proteome analysis: An approach to the etiology of age-related macular degeneration [J].

Crabb, JW ;

Miyagi, M ;

Gu, XR ;

Shadrach, K ;

West, KA ;

Sakaguchi, H ;

Kamei, M ;

Hasan, A ;

Yan, L ;

Rayborn, ME ;

Salomon, RG ;

Hollyfield, JG .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2002, 99 (23) :14682-14687

[38] Clinicopathologic correlation of progressive fibrovascular proliferation associated with occult choroidal neovascularization in age-related macular degeneration [J].

Csaky, K ;

Baffi, J ;

Chan, CC ;

Byrnes, GA .

ARCHIVES OF OPHTHALMOLOGY, 2004, 122 (04) :650-652

[39] Basal linear deposit and large drusen are specific for early age-related maculopathy [J].

Curcio, CA ;

Millican, CL .

ARCHIVES OF OPHTHALMOLOGY, 1999, 117 (03) :329-339

[40] GRANULOMATOUS REACTION TO BRUCHS MEMBRANE IN AGE-RELATED MACULAR DEGENERATION [J].

DASTGHEIB, K ;

GREEN, WR .

ARCHIVES OF OPHTHALMOLOGY, 1994, 112 (06) :813-818

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