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. 2009:15:592-7.
Epub 2009 Mar 27.

Search for a correlation between telomere length and severity of retinitis pigmentosa due to the dominant rhodopsin Pro23His mutation

Dyonne T Hartong  1 , Terri L McGee, Michael A Sandberg, Eliot L Berson, Folkert W Asselbergs, Pim van der Harst, Immaculata De Vivo, Thaddeus P Dryja
Affiliations

Search for a correlation between telomere length and severity of retinitis pigmentosa due to the dominant rhodopsin Pro23His mutation

Dyonne T Hartong et al. Mol Vis. 2009.

Abstract

Purpose: Great variation exists in the age of onset of symptoms and the severity of disease at a given age in patients with retinitis pigmentosa (RP). The final pathway for this disease may involve apoptotic photoreceptor cell death. Telomere length is associated with biologic aging, senescence, and apoptosis. We evaluated whether the length of telomeres in leukocytes correlated with the severity of RP in patients with the Pro23His rhodopsin mutation who have shown marked heterogeneity in disease severity.

Methods: We evaluated 122 patients with the Pro23His rhodopsin mutation. The patients' retinal function was stratified according to their 30-Hz cone electroretinogram (ERG). The length of telomeres in leukocytes was measured by the quantitative real time polymerase chain reaction (qRT-PCR) method in the 15 patients with the highest age-adjusted 30-Hz ERG amplitudes and in the 15 patients with the lowest amplitudes.

Results: Mean leukocyte telomere length was similar in the 15 patients with the highest cone ERG amplitudes (median: 0.40 units; interquartile range 0.36-0.56) and the 15 patients with the lowest cone amplitudes (median: 0.41 units; inter quartile range 0.34 -0.64; p=0.95).

Conclusions: We found no evidence for an association between telomere length and the severity of RP as monitored by the cone ERG in patients with the Pro23His rhodopsin mutation.

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Figures

Figure 1
Figure 1
Relative telomere lengths in Pro23His RP patients. Boxplot showing no difference in T:S ratio’s between patients with high- or low ERG amplitudes. The shaded boxes indicate the interquartile range. The horizontal line in each shaded box denotes the median, and the error bars mark the upper and lower 95 percentiles of the T:S ratio.
See this image and copyright information in PMC

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