From compliment to insult: genetics of the complement system in physiology and disease in the human retina

被引：15
|
作者：
Mullins, Robert F. [1 ,2 ]
Warwick, Alasdair N. [3 ]
Sohn, Elliott H. [1 ,2 ]
Lotery, Andrew J. [4 ]
机构：
[1] Univ Iowa, Dept Ophthalmol & Visual Sci, Iowa City, IA USA
[2] Univ Iowa, Stephen A Wynn Inst Vis Res, Iowa City, IA USA
[3] Imperial Coll Healthcare NHS Fdn Trust, Western Eye Hosp, London, England
[4] Univ Southampton, Fac Med, Clin & Expt Sci, Southampton, Hants, England
来源：
HUMAN MOLECULAR GENETICS | 2017年 / 26卷 / R1期
关键词：
MEMBRANE ATTACK COMPLEX; FACTOR-H POLYMORPHISM; EXPERIMENTAL AUTOIMMUNE UVEORETINITIS; INDUCED CHOROIDAL NEOVASCULARIZATION; DENSE DEPOSIT DISEASE; MACULAR-DEGENERATION; ALTERNATIVE PATHWAY; BRUCHS MEMBRANE; TARGETED INHIBITOR; REGULATORY PROTEIN;
D O I：
10.1093/hmg/ddx181
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Age-relatedmacular degeneration (AMD) is amajor cause of visual impairment that affects the central retina. Genome wide association studies and candidate gene screens have identifiedmembers of the complement pathway as contributing to the risk of AMD. In this review, we discuss the complement system, its importance in retinal development and normal physiology, how its dysregulation may contribute to disease, and how itmight be targeted to prevent damage to the aging choriocapillaris in AMD.
引用
收藏
页码：R51 / R57
页数：7
相关论文
共 50 条
  • [21] Circadian Rhythms and Metabolic Syndrome From Experimental Genetics to Human Disease
    Maury, Eleonore
    Ramsey, Kathryn Moynihan
    Bass, Joseph
    CIRCULATION RESEARCH, 2010, 106 (03) : 447 - 462
  • [22] Biphasic effect of gingipains from Porphyromonas gingivalis on the human complement system
    Popadiak, Katarzyna
    Potempa, Jan
    Riesbeck, Kristian
    Blom, Anna M.
    JOURNAL OF IMMUNOLOGY, 2007, 178 (11): : 7242 - 7250
  • [23] Strategies developed by bacteria and virus for protection from the human complement system
    Blom, AM
    SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION, 2004, 64 (05): : 479 - 495
  • [24] The human genetics of eating disorders - Lessons from the leptin/melanocortin system
    Costa, JL
    Brennen, MB
    Hochgeschwender, U
    CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA, 2002, 11 (02) : 387 - +
  • [25] ABO AND LEWIS BLOOD-GROUP SYSTEM - IMMUNOCHEMISTRY GENETICS AND RELATION TO HUMAN DISEASE
    MARCUS, DM
    NEW ENGLAND JOURNAL OF MEDICINE, 1969, 280 (18): : 994 - +
  • [26] Between destiny and disease: Genetics and molecular pathways of human central nervous system aging
    Glorioso, Christin
    Sibille, Etienne
    PROGRESS IN NEUROBIOLOGY, 2011, 93 (02) : 165 - 181
  • [27] Molecular genetics of human hypertension: From rare outliers to common disease pathways
    Lifton, Richard
    JOURNAL OF HYPERTENSION, 2006, 24 : 425 - 425
  • [28] Modulating Effects of Arabinogalactans from Plant Gum Exudates on Human Complement System
    Bovo, F.
    Lenzi, R. M.
    Yamassaki, F. T.
    Messias-Reason, I. J.
    Campestrini, L. H.
    Stevan, F. R.
    Zawadzki-Baggio, S. F.
    Maurer, J. B. B.
    SCANDINAVIAN JOURNAL OF IMMUNOLOGY, 2016, 83 (05) : 314 - 320
  • [29] Ca2+-binding proteins in the retina:: from discovery to etiology of human disease
    Sokal, I
    Li, N
    Verlinde, CLMJ
    Haeseleer, F
    Baehr, W
    Palczewski, K
    BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH, 2000, 1498 (2-3): : 233 - 251
  • [30] Human brain imaging studies of genetics: a bridge (pont) from molecule to system
    Frackowiak, RSJ
    JOURNAL OF NEUROCHEMISTRY, 2004, 90 : 132 - 132
12345