Dutton Lab

Doheny Eye Institute

Pasadena · United States

NIH-funded
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NIH R01 · 2025

Mitochondrial defects in the retinal pigment epithelium and the CFH risk allele for age-related macular degeneration

Project Abstract/Summary Age-related macular degeneration (AMD) is the leading cause of blindness among older adults in the developed world. While recent studies support that mitochondrial (mt) defects in the retinal pigment epithelium (RPE) contribute to the pathogenesis of AMD, the causes of the dysfunction remains to be elucidated. Of the genetic polymorphisms linked to AMD, one of the most prevalent occurs in the gene encoding complement factor H (CFH). CFH is a negative regulator of the alternative complement pathway and protects against inappropriate complement activation that can cause chronic inflammation. The rs1061170 single-nucleotide polymorphism (SNP) in CFH, substituting a…

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