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Inherited mitochondrial DNA variants can affect complement, inflammation and apoptosis pathways: insights into mitochondrial-nuclear interactions.

Human molecular genetics - 1 Jul 2014

Kenney M Cristina, Chwa Marilyn, Atilano Shari R, Falatoonzadeh Payam, Ramirez Claudio, Malik Deepika, Tarek Mohamed, Cáceres-del-Carpio Javier, Nesburn Anthony B, Boyer David S, Kuppermann Baruch D, Vawter Marquis, Jazwinski S Michal, Miceli Michael, Wallace Douglas C, Udar Nitin

Abstract excerpt

Age-related macular degeneration (AMD) is the leading cause of vision loss in developed countries. While linked to genetic polymorphisms in the complement pathway, there are many individuals with high risk alleles that do not develop AMD, suggesting that other 'modifiers' may be involved. Mitochondrial (mt) haplogroups, defined by accumulations of specific mtDNA single nucleotide polymorphisms (SNPs) which...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24584571
DOI: 10.1093/hmg/ddu065
PMCID: PMC4049308

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