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

[摘要] Purpose: Great variation exists in theage of onset of symptoms and the severity of disease at a given age inpatients with retinitis pigmentosa (RP). The final pathway for thisdisease may involve apoptotic photoreceptor cell death. Telomere lengthis associated with biologic aging, senescence, and apoptosis. Weevaluated whether the length of telomeres in leukocytes correlated withthe severity of RP in patients with the Pro23His rhodopsin mutation whohave shown marked heterogeneity in disease severity. Methods: We evaluated 122 patients withthe Pro23His rhodopsin mutation. The patients’ retinal function wasstratified according to their 30-Hz cone electroretinogram (ERG). Thelength of telomeres in leukocytes was measured by the quantitative realtime polymerase chain reaction (qRT–PCR) method in the 15 patients withthe highest age-adjusted 30-Hz ERG amplitudes and in the 15 patientswith the lowest amplitudes. Results: Mean leukocyte telomere lengthwas similar in the 15 patients with the highest cone ERG amplitudes(median: 0.40 units; interquartile range 0.36–0.56) and the 15 patientswith the lowest cone amplitudes (median: 0.41 units; inter quartilerange 0.34 −0.64; p=0.95). Conclusions: We found no evidence for anassociation between telomere length and the severity of RP as monitoredby the cone ERG in patients with the Pro23His rhodopsin mutation.

[学科分类] 生物化学/生物物理