Analysis of mitochondrial sequences in patients with keratoconus

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Keratoconus (KTCN) is thinning and anterior protrusion of the cornea. The etiology of KTCN remains unknown. Both genetic and environmental factors are associated with the disorder. The purpose of this study was to identify novel genetic factors by analyzing mitochondrial sequences in cases and controls from Polish population. There are available only a few analyses of some mitochondrial sequences in KTCN studies.


A total of 96 individuals from Polish population were included into this study. Chosen mtDNA fragments of all individuals were sequenced.


Sequencing analysis of chosen mitochondrial genome fragments have revealed numerous alterations including several novel polymorphisms. No sequence variants segregated significantly more frequent with KTCN have been identified.


Analysis of chosen fragments of mitochondrial genome in Polish patients have revealed numerous sequence variants, however our results do not support involvement of mtDNA changes in KTCN in Polish patients. The KTCN development does not depend on a single change in the gene, but on the accumulation of numerous sequence variants. The complexity of the genetic basis of KTCN causes the need to find another approach to further investigate the etiology of KTCN. Support: National Science Centre (Poland), Grant 2011/03/N/NZ5/01470

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