Mitochondrial DNA haplogroups confer differences in risk for age-related macular degeneration: a case control study.

Background: Age-related macular degeneration (AMD) is the leading cause of vision loss in elderly, Caucasian populations. There is strong evidence that mitochondrial dysfunction and oxidative stress play a role in the cell death found in AMD retinas. The purpose of this study was to examine the association of the Caucasian mitochondrial JTU haplogroup cluster with AMD.

Mitochondrial DNA haplogroups associated with age-related macular degeneration.

Purpose: To examine the mtDNA control regions in normal and age-related macular degeneration (AMD) retinas. To identify the mtDNA variations associated with AMD.

Methods: Retinas from 10 normal and 11 AMD globes were isolated and analyzed for mtDNA rearrangements by long extension-polymerase chain reaction (LX-PCR) and for the nature and frequency of single-nucleotide polymorphisms (SNPs) in the mtDNA control region by direct sequencing.

Hypersensitive response to oxidative stress in keratoconus corneal fibroblasts.

Purpose: It is unclear whether the oxidative damage found in keratoconus (KC) corneas results from innate defects of corneal fibroblasts or is due to excessive environmental challenges encountered by the patient with KC. The purpose of this study was to explore whether KC cells have inherent, exaggerated hypersensitivity to oxidative stressors.

Methods: Normal and KC corneal stromal fibroblasts were incubated in neutral or low-pH conditions, with or without hydrogen peroxide (H(2)O(2)).

Activation of caspase-8 and caspase-12 pathways by 7-ketocholesterol in human retinal pigment epithelial cells.

Purpose: To determine whether caspase or cathepsin pathways are activated in human retinal pigment epithelial cells (ARPE-19) after exposure to 7-ketocholesterol (7kCh).

Methods: ARPE-19 cells were exposed to 7kCh with or without z-VAD-fmk, a pan-caspase inhibitor. Caspase-3, -8, and -9 activities were measured by a fluorochrome inhibitor of caspase (FLICA) assay.