Age-related macular degeneration associated polymorphism rs10490924 in ARMS2 results in deficiency of a complement activator.

ABSTRACT:

Background

Age-related macular degeneration (AMD) is the leading cause of blindness in developed countries. The polymorphism rs10490924 in the ARMS2 gene is highly associated with AMD and linked to an indel mutation (del443ins54), the latter inducing mRNA instability. At present, the function of the ARMS2 protein, the exact cellular sources in the retina and the biological consequences of the rs10490924 polymorphism are unclear.

Methods

Recombinant ARMS2 was expressed in Pichia pastoris, and protein functions were studied regarding cell surface binding and complement activation in human serum using fluoresence-activated cell sorting (FACS) as well as laser scanning microscopy (LSM). Biolayer interferometry defined protein interactions. Furthermore, endogenous ARMS2 gene expr

SUBMITTER: Micklisch S 

PROVIDER: S-EPMC5234120 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature