Andreja Cokan Vujkovac1, Srdjan Novaković2, Bojan Vujkovac3, Milan Števanec4, Petra Škerl2, Mišo Šabovič5. 1. Department of Internal Medicine, General Hospital Slovenj Gradec, Slovenj Gradec, Slovenia, andreja.cokan@guest.arnes.si. 2. Institute of Oncology Ljubljana, Department of Molecular Diagnostics, Ljubljana, Slovenia. 3. Department of Internal Medicine, General Hospital Slovenj Gradec, Slovenj Gradec, Slovenia. 4. Institute of Anatomy, Medical Faculty, Ljubljana, Slovenia. 5. Department of Vascular Diseases, University of Ljubljana Medical Center, Ljubljana, Slovenia.
Abstract
INTRODUCTION: The lifespan of patients with Fabry disease (FD) is shorter than that seen in the general population. Leukocyte telomere length (LTL) and telomerase activity (TA) are potential markers of biologic aging. The aim of the current study was to determine the LTL and TA in FD patients and to assess the correlation between LTL and TA and renal involvement. METHODS: We included 33 FD patients and 66 healthy matched controls. LTL and TA were measured using a quantitative PCR assay and gene expression assay. FD patients were stratified by renal function (estimated glomerular filtration rate [eGFR] higher or lower than 60 mL/min/1.73 m2) and proteinuria (urine protein creatinine ratio higher or lower than 0.5 g/g). RESULTS: LTL was significantly shorter (0.69 vs. 0.73, p = 0.015) and TA significantly higher (1.55 vs. 1.19, p = 0.047) in FD patients compared to controls. Males with FD had significantly shorter LTL (p = 0.020) and lower, but non-significant, TA compared to male controls (p = 0.333). Female FD patients had similar LTL (p = 0.285) but significantly higher TA compared to female controls (p = 0.005). LTL was not influenced by eGFR, but TA was significantly lower in the low eGFR group (p = 0.003). CONCLUSIONS: FD patients have significantly shorter LTL, but significantly higher TA compared to healthy controls. Increased TA activity in FD patients could be the compensation mechanism to prevent LTL decrease (and accelerated ageing), which seems to be exhausted at the advanced stage of renal disease.
INTRODUCTION: The lifespan of patients with Fabry disease (FD) is shorter than that seen in the general population. Leukocyte telomere length (LTL) and telomerase activity (TA) are potential markers of biologic aging. The aim of the current study was to determine the LTL and TA in FDpatients and to assess the correlation between LTL and TA and renal involvement. METHODS: We included 33 FDpatients and 66 healthy matched controls. LTL and TA were measured using a quantitative PCR assay and gene expression assay. FDpatients were stratified by renal function (estimated glomerular filtration rate [eGFR] higher or lower than 60 mL/min/1.73 m2) and proteinuria (urine protein creatinine ratio higher or lower than 0.5 g/g). RESULTS: LTL was significantly shorter (0.69 vs. 0.73, p = 0.015) and TA significantly higher (1.55 vs. 1.19, p = 0.047) in FDpatients compared to controls. Males with FD had significantly shorter LTL (p = 0.020) and lower, but non-significant, TA compared to male controls (p = 0.333). Female FDpatients had similar LTL (p = 0.285) but significantly higher TA compared to female controls (p = 0.005). LTL was not influenced by eGFR, but TA was significantly lower in the low eGFR group (p = 0.003). CONCLUSIONS:FDpatients have significantly shorter LTL, but significantly higher TA compared to healthy controls. Increased TA activity in FDpatients could be the compensation mechanism to prevent LTL decrease (and accelerated ageing), which seems to be exhausted at the advanced stage of renal disease.
Authors: Thomas Ebert; Sven-Christian Pawelzik; Anna Witasp; Samsul Arefin; Sam Hobson; Karolina Kublickiene; Paul G Shiels; Magnus Bäck; Peter Stenvinkel Journal: Toxins (Basel) Date: 2020-04-04 Impact factor: 4.546
Authors: Jessica Quimby; Andrea Erickson; Shannon Mcleland; Rachel Cianciolo; David Maranon; Katharine Lunn; Jonathan Elliott; Jack Lawson; Ann Hess; Rene Paschall; Susan Bailey Journal: Vet Sci Date: 2021-12-08