[Preliminary study of mitochondrial DNA deletions in age-related macular degeneration].
OBJECTIVE
To investigate mitochondrial DNA mutation associated with oxidative phosphorylation defect due to aging and to inspect it whether to play a role in the pathogenesis of age-related macular degeneration(ARMD).


METHODS
Using polymerase chain reaction (PCR) analysis, the mitochondrial DNA deletions were detected on blood samples in 20 patients with age-related macular degeneration (ARMD) and in 10 controls.


RESULTS
The abnormal mtDNA fragments in blood cells were amplified on 6 cases of wet ARMD that indicated there might be three types of mtDNA deletions between positions 7901 and 13,650. The sizes of mtDNA deletions were 3.67 kb, 5.0 kb and 5.2 kb respectively. No abnormal mtDNA fragments were amplified on 10 cases in control.


CONCLUSIONS
It suggests that there were multiple mitochondrial DNA deletions on the blood cells of ARMD, including an aging-associated 5.0 kb deletion and it requires further studies on relationship between the mitochondrial DNA mutation and the etiology of ARMD.
Yu
J
J
Zhongshan Ophthalmic Center, Sun Yet-sen University of Medical Sciences, Guangzhou 510060, China.
Wu
L
L
Lin
X
X
D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D004272:DNA, Mitochondrial / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D008268:Macular Degeneration / Q000209:etiology / Q000235:genetics*; D008875:Middle Aged
D004272:DNA, Mitochondrial